A familial case of hereditary angioneurotic edema in Japan.

A 53-year-old man was admitted with impairment of breathing following laryngeal edema. Serum levels of CH50 (22 U/ml), C4 (3 mg/dl), C1-INH protein (10.6 mg/dl) and C1-INH activity (LT 25%) were low. Complement study of the patient's family members revealed that he was one of 5 patients in 3 generations with hereditary angioneurotic edema (HANE). Administration of the androgen derivatives Danazol (600 mg/day) and Oxymetholone (30 mg/day) effectively increased serum levels of C1-INH activity and C4. Though eruption and hepatic dysfunction attributable to administration of the drugs appeared, these side effects improved after withdrawal of the drugs. Subsequently, the treatment with Danazol at a low dose (100 mg/day) was resumed, and the patient has had no episodes of edema for the past 3 years. Regarding the familial cases of HANE, fewer than 20 have been reported in Japan.

A

    53-year-old
    AGE

    man
    GENDER

 was admitted with

    impairment of breathing
    SYMPTOMS

 following

    laryngeal edema
    SYMPTOMS

.

    Serum levels of CH50 (22 U/ml), C4 (3 mg/dl), C1-INH protein (10.6 mg/dl) and C1-INH activity (LT 25%) were low
    BIOCHEMICAL

.

    Complement study of
    PARACLINICAL

 the patient's

    family members
    FAMILY

 revealed that

    he
    GENDER

    was one of 5 patients in 3 generations with hereditary angioneurotic edema (HANE)
    FAMILY

.

    Administration of the androgen derivatives Danazol (600 mg/day) and Oxymetholone (30 mg/day)
    MEDICATION

    effectively increased serum levels of C1-INH activity and C4
    BIOCHEMICAL

. Though

    eruption and hepatic dysfunction attributable to administration of the drugs appeared
    SYMPTOMS

,

    these side effects improved
    SYMPTOMS

 after

    withdrawal of the drugs
    NEG_FINDINGS

. Subsequently, the

    treatment with Danazol at a low dose (100 mg/day)
    MEDICATION

 was resumed, and the patient has had

    no episodes of edema
    NEG_FINDINGS

 for

    the past 3 years
    NEG_FINDINGS

. Regarding the familial cases of

    HANE
    DIAGNOSIS

, fewer than 20 have been reported in

    Japan
    ETHNICITY

.

withdrawal of the drugs
no episodes of edema
the past 3 years


Hereditary angioedema complicated with chronic renal failure: report of sibling cases.

Hereditary angioedema (HAE) is known as a deficiency state of C1 inhibitor (C1 INH), an important protease inhibitor protein involved in the complement system. As with other components of the classical pathway of the complement system, a state of its deficiency often causes clinical immunoregulatory disorders. A 45-yr-old brother and a 63-yr-old sister with HAE both developed chronic renal failure, probably due to chronic glomerulonephritis, and required regular hemodialysis. This is, to our knowledge, the first report of sibling cases of HAE associated with chronic renal failure.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is known as a

    deficiency state of C1 inhibitor (C1 INH), an important protease inhibitor protein involved in the complement system
    BIOCHEMICAL

. As with other components

    of the classical pathway of the complement system
    BIOCHEMICAL

, a state

    of its deficiency
    BIOCHEMICAL

 often causes

    clinical immunoregulatory disorders
    SYMPTOMS

. A

    45-yr-old
    AGE

    brother
    GENDER

    and a 63-yr-old
    FAMILY

    sister with HAE
    FAMILY

 both developed

    chronic renal failure
    SYMPTOMS

, probably due to

    chronic glomerulonephritis
    DIAGNOSIS

, and required

    regular hemodialysis
    MEDICATION

. This is, to our knowledge, the first report of

    sibling cases of HAE
    FAMILY

 associated with

    chronic renal failure
    SYMPTOMS

.

Hereditary angioedema (HAE)
chronic glomerulonephritis

clinical immunoregulatory disorders
chronic renal failure
chronic renal failure


[Hereditary angioneurotic edema associated with DIC and treated effectively by nafamostat mesilate].

A 36-year-old woman with disseminated intravascular coagulation syndrome (DIC) was admitted to the Third Department of Internal Medicine of the National Defense Medical College Hospital. Even after she recovered from DIC, she had a low level of C1-inactivator. Her past history, family history and family study revealed that she and her family showed hereditary angioneurotic edema (HANE). There have been no reports of HANE associated with DIC. She had two HANE attacks after discharge. We used nafamostat mesilate, a strong inhibitor of activated first complement component, to treat the attacks. She obtained subjective relief and her serological data were improved. Nafamostat mesilate was considered effective for HANE attack.

A

    36-year-old
    AGE

    woman
    GENDER

 with

    disseminated intravascular coagulation syndrome (DIC)
    DIAGNOSIS

 was admitted to the Third Department of Internal Medicine of the National Defense Medical College Hospital. Even after

    she
    GENDER

    recovered from DIC
    NEG_FINDINGS

,

    she
    GENDER

 had a

    low level of C1-inactivator
    BIOCHEMICAL

.

    Her
    GENDER

 past history, family history and

    family study
    PARACLINICAL

 revealed that

    she
    GENDER

    and her family showed hereditary angioneurotic edema (HANE)
    FAMILY

. There have been no reports of

    HANE associated with DIC
    DIAGNOSIS

.

    She
    GENDER

 had two

    HANE attacks
    SYMPTOMS

 after discharge. We used

    nafamostat mesilate, a strong inhibitor of activated first complement component
    MEDICATION

, to treat the attacks.

    She
    GENDER

 obtained

    subjective relief
    SYMPTOMS

 and her

    serological data were improved
    SYMPTOMS

.

    Nafamostat mesilate
    MEDICATION

 was considered effective for

    HANE attack
    DIAGNOSIS

.

HANE attacks
subjective relief
serological data were improved


Hormonally exacerbated hereditary angioedema.

Hereditary angioedema is a rare disorder which is associated with an inherited deficiency of the inhibitor of the activated first component of complement. Genetic transmission occurs in an autosomal dominant manner. Affected patients are heterozygotes, and their deficiency is incomplete, many of them having up to 20% of the normal amount of the inhibitor. We describe two cases of C1 esterase inhibitor deficiency occurring in a mother and daughter in whom the symptoms appeared to be related to the menstrual cycle or the taking of the oral contraceptive pill. Although both features have been mentioned in the literature, to the best of our knowledge premenstrual exacerbations have not been documented previously. We examined the likely basis of hormonally exacerbated hereditary angioedema.

    Hereditary angioedema
    DIAGNOSIS

 is a rare disorder which is associated with an

    inherited deficiency of the inhibitor of the activated first component of complement
    GENETICS

.

    Genetic transmission occurs in an autosomal dominant manner
    GENETICS

. Affected patients are

    heterozygotes
    GENETICS

, and their

    deficiency is incomplete
    BIOCHEMICAL

, many of them

    having up to 20% of the normal amount of the inhibitor
    BIOCHEMICAL

. We describe two cases of

    C1 esterase inhibitor deficiency
    BIOCHEMICAL

 occurring in a

    mother and daughter
    FAMILY

 in whom the

    symptoms appeared to be related to the menstrual cycle
    SYMPTOMS

 or the

    taking of the oral contraceptive pill
    MEDICATION

. Although both features have been mentioned in the literature, to the best of our knowledge

    premenstrual exacerbations
    SYMPTOMS

 have not been documented previously. We examined the likely basis of

    hormonally exacerbated hereditary angioedema
    DIAGNOSIS

.


[Hereditary angioedema. Description of a pediatric case].

Hereditary angioedema is a disease due to deficiency or functional anomaly of the serum inhibitor of C1-esterase, clinically characterised by the recurrence of oedematous episodes in the subcutis and mucosas; if not diagnoses in time, this condition is potentially fatal (up to 50% of cases for edema of the glottis). A case diagnosed in paediatric age is reported.

    Hereditary angioedema
    DIAGNOSIS

 is a disease due to

    deficiency or functional anomaly of the serum inhibitor of C1-esterase
    BIOCHEMICAL

, clinically characterised by the

    recurrence of oedematous episodes in the subcutis and mucosas
    SYMPTOMS

; if not diagnoses in time, this condition is potentially fatal (up to 50% of cases for

    edema of the glottis
    SYMPTOMS

). A case diagnosed in

    paediatric
    AGE

    age
    AGE

 is reported.


Angioedema as a complication in periodontal surgery: report of a case.

Angioedema is a diffuse swelling of the subcutaneous or submucosal tissues that occurs in both hereditary and non-hereditary forms. It can be a temporarily disfiguring condition, but not usually a serious one unless the airway is compromised. In the majority of cases, no underlying cause can be identified. In this report, a case of "idiopathic" angioedema that occurred while performing a periodontal surgical procedure is presented. This case is interesting because the patient was on long-term use of an angiotensin-converting enzyme [ACE] inhibitor for hypertension, and recent evidence has shown that ACE inhibitors suppress the breakdown of circulating bradykinins. With high plasma levels of bradykinins, a local anesthetic, periodontal surgical procedures, or even emotional stress may trigger an attack of angioedema. Practitioners should be aware of the pharmacologic side effects of ACE inhibitors and be prepared to handle an emergency if a patient's airway becomes compromised.

    Angioedema
    DIAGNOSIS

 is a

    diffuse swelling of the subcutaneous or submucosal tissues
    SYMPTOMS

 that occurs in both

    hereditary
    GENETICS

 and

    non-hereditary
    GENETICS

 forms. It can be a

    temporarily disfiguring
    SYMPTOMS

 condition, but not usually a serious one unless the

    airway is compromised
    NEG_FINDINGS

. In the majority of cases,

    no underlying cause
    NEG_FINDINGS

 can be identified. In this report, a case of

    "idiopathic" angioedema
    DIAGNOSIS

 that occurred while performing a

    periodontal surgical procedure
    MEDICATION

 is presented. This case is interesting because the patient was on

    long-term use of an angiotensin-converting enzyme [ACE] inhibitor for hypertension
    MEDICATION

, and recent evidence has shown that

    ACE inhibitors
    MEDICATION

    suppress the breakdown of circulating bradykinins
    BIOCHEMICAL

. With

    high plasma levels of bradykinins
    BIOCHEMICAL

, a

    local anesthetic
    MEDICATION

,

    periodontal surgical procedures
    MEDICATION

, or even

    emotional stress
    SYMPTOMS

 may trigger an attack of

    angioedema
    DIAGNOSIS

. Practitioners should be aware of the

    pharmacologic side effects of ACE inhibitors
    SYMPTOMS

 and be prepared to handle an emergency if a patient's airway becomes compromised.

Angioedema
"idiopathic" angioedema
angioedema

airway is compromised
no underlying cause


[Hereditary angioedema type II with predominantly abdominal symptoms].

For two years a 19-year-old patient had been complaining of recurrent abdominal symptoms consisting of severe colicky pain, nausea, vomiting and diarrhoea. Occasionally he noticed concomitant subcutaneous swellings in the limbs. There were no swellings in the face or the region of the upper airway. The symptoms occurred once or twice a month, spontaneously receding within 3-4 days. These signs and symptoms indicated hereditary angio-oedema. Serum concentration of C1-esterase inhibitor was normal (13 mg/dl), but its serum activity was reduced to 16% (normal range 80-125%). This is thus a case of type II C1-esterase inhibitor deficiency. Since starting low-dosage treatment with Danazol (initially, for two months, 200 mg daily, then 200 mg five times per week) the patient has been symptom-free.

For two years a

    19-year-old
    AGE

 patient had been complaining of

    recurrent abdominal symptoms
    SYMPTOMS

 consisting of

    severe colicky pain
    SYMPTOMS

,

    nausea
    SYMPTOMS

,

    vomiting
    SYMPTOMS

 and

    diarrhoea
    SYMPTOMS

. Occasionally

    he
    GENDER

 noticed

    concomitant subcutaneous swellings in the limbs
    SYMPTOMS

. There were

    no swellings in the face or the region of the upper airway
    NEG_FINDINGS

. The symptoms occurred once or twice a month,

    spontaneously receding
    SYMPTOMS

 within 3-4 days. These signs and symptoms indicated

    hereditary angio-oedema
    SYMPTOMS

.

    Serum concentration of C1-esterase inhibitor was normal (13 mg/dl)
    NEG_FINDINGS

, but

    its serum activity was reduced to 16% (normal range 80-125%)
    BIOCHEMICAL

. This is thus a case of

    type II C1-esterase inhibitor deficiency
    BIOCHEMICAL

. Since starting

    low-dosage treatment with Danazol (initially, for two months, 200 mg daily, then 200 mg five times per week)
    MEDICATION

 the patient has been

    symptom-free
    NEG_FINDINGS

.


[Hereditary angioedema. Review and presentation of 2 cases in a family].

The clinical records of two patients (mother and son) who had hereditary angioedema of type 1 since childhood are studied. The angioedema was present in each case after trauma, they both had history of chronic allergic rhinitis and the son had of spastic bronchitis. In each of these two patients the level of C4 and CH50 was low, C3 was normal and C1 INH was absent. In a twin (bivitaline) brother and one mother's sister as well as in the son's father the level of C1 INH was normal. They were treated every time successfully with steroids and antiallergic medicine.

The clinical records of two patients (

    mother
    GENDER

 and

    son
    GENDER

) who had

    hereditary angioedema of type 1
    DIAGNOSIS

 since

    childhood
    AGE

 are studied. The

    angioedema
    SYMPTOMS

 was present in each case after

    trauma
    SYMPTOMS

, they both had

    history of chronic allergic rhinitis
    FAMILY

 and the

    son had of spastic bronchitis
    FAMILY

. In each of these two patients the

    level of C4 and CH50 was low
    BIOCHEMICAL

,

    C3 was normal
    NEG_FINDINGS

 and

    C1 INH was absent
    BIOCHEMICAL

.

    In a twin (bivitaline) brother and one mother's sister as well as in the son's father
    FAMILY

 the

    level of C1 INH was normal
    NEG_FINDINGS

. They were treated every time successfully with

    steroids and antiallergic medicine
    MEDICATION

.

level of C4 and CH50 was low
C1 INH was absent

C3 was normal
level of C1 INH was normal


[Hereditary angioedema, a rare cause of recurrent abdominal pains. A report of 2 clinical cases and comments of a general nature].

Two clinical cases of recurrent abdominal pain are reported. These led to the unusual diagnosis of hereditary angioedema due to deficiency of C1 esterase inhibitor (C1-INH). The difficulties of identifying this genetic disease were caused by the variability of its clinical expression: the alteration of an autosomal dominant gene triggers angioedema attacks that may strike the cutaneous, gastroenteric and respiratory apparatus with differing intensity. Various subjects suffering from hereditary angioedema were found in the genealogical trees of the two patients, but all had extraintestinal symptoms of very variable intensity. Measurement of C4 and C1-INH made it is possible to identify in the first family a functional defect of C1 esterase inhibitor and in the second a quantitative defect in the same inhibitor.

Two clinical cases of

    recurrent abdominal pain
    SYMPTOMS

 are reported. These led to the unusual diagnosis of

    hereditary angioedema
    DIAGNOSIS

 due to

    deficiency of C1 esterase inhibitor (C1-INH)
    BIOCHEMICAL

. The difficulties of identifying this

    genetic disease
    GENETICS

 were caused by the variability of its clinical expression: the

    alteration of an autosomal dominant gene
    GENETICS

 triggers

    angioedema attacks that may strike the cutaneous, gastroenteric and respiratory apparatus with differing intensity
    SYMPTOMS

. Various subjects suffering from

    hereditary angioedema
    DIAGNOSIS

 were found in the

    genealogical trees
    FAMILY

 of the two patients, but all had

    extraintestinal symptoms of very variable intensity
    SYMPTOMS

.

    Measurement of C4 and C1-INH
    BIOCHEMICAL

 made it is possible to identify in the first family a

    functional defect of C1 esterase inhibitor
    BIOCHEMICAL

 and in the second a

    quantitative defect in the same inhibitor
    BIOCHEMICAL

.

hereditary angioedema
hereditary angioedema


Hereditary angioneurotic edema in the puerperium. A case report.

Hereditary angioneurotic edema is a potentially fatal condition. Below is described the first reported case of the initial presentation of the condition precipitated by vaginal delivery.

    Hereditary angioneurotic edema
    DIAGNOSIS

 is a potentially fatal condition. Below is described the first reported case of the initial presentation of the condition precipitated by

    vaginal delivery
    MEDICATION

.


Anesthesia for athletes using performance-enhancing drugs.

Anabolic-androgenic steroids are used in the treatment of numerous medical conditions, including Fanconi's anemia, hypogonadism, hereditary angioedema, hypopituitarism and impotence. However, because of their potent anabolic properties, athletes began to use them to enhance body strength, size and endurance. Despite warnings from the medical and scientific communities of dangerous side effects such as Wilm's tumor, hepatocellular carcinoma, stroke and myocardial infarction, some athletes continue to use anabolic steroids. Among the numerous research publications, only one case report was found which related difficulties in anesthesia administration. This paper presents the physiologic changes associated with anabolic steroid ingestion and applies these changes to the administration of anesthesia.

    Anabolic-androgenic steroids
    MEDICATION

 are used in the treatment of numerous medical conditions, including

    Fanconi's anemia
    DIAGNOSIS

,

    hypogonadism
    DIAGNOSIS

,

    hereditary angioedema
    DIAGNOSIS

,

    hypopituitarism
    SYMPTOMS

 and

    impotence
    SYMPTOMS

. However, because of their

    potent anabolic properties
    SYMPTOMS

,

    athletes
    GENDER

 began to use them to

    enhance body strength, size
    SYMPTOMS

 and

    endurance
    SYMPTOMS

. Despite warnings from the medical and scientific communities of

    dangerous side effects
    SYMPTOMS

 such as

    Wilm's tumor
    DIAGNOSIS

,

    hepatocellular carcinoma
    DIAGNOSIS

,

    stroke
    SYMPTOMS

 and

    myocardial infarction
    SYMPTOMS

, some

    athletes
    GENDER

 continue to use

    anabolic steroids
    MEDICATION

. Among the numerous research publications, only one case report was found which related difficulties in

    anesthesia administration
    MEDICATION

. This paper presents the

    physiologic changes
    SYMPTOMS

 associated with

    anabolic steroid ingestion
    MEDICATION

 and applies these changes to the

    administration of anesthesia
    MEDICATION

.

Anabolic-androgenic steroids
anabolic steroids
anesthesia administration
anabolic steroid ingestion
administration of anesthesia

Fanconi's anemia
hypogonadism
hereditary angioedema
Wilm's tumor
hepatocellular carcinoma

hypopituitarism
impotence
potent anabolic properties
enhance body strength, size
endurance
dangerous side effects
stroke
myocardial infarction
physiologic changes


[Angioneurotic edema in hereditary alpha-1-antitrypsin deficiency].

A young man with angioedema presented with normal concentration and function of C1-esterase inhibitor, but with a hereditary deficiency of alpha-1 antitrypsin (Pi-ZZ type). The pathogenetic relevance of this defect is discussed with respect to the partial deficiency of the complement component C4 (C4BQ0), which was found in addition.

A

    young
    AGE

    man
    GENDER

 with

    angioedema
    DIAGNOSIS

 presented with

    normal concentration and function of C1-esterase inhibitor
    NEG_FINDINGS

, but with a

    hereditary deficiency of alpha-1 antitrypsin (Pi-ZZ type)
    GENETICS

. The pathogenetic relevance of this defect is discussed with respect to the

    partial deficiency of the complement component C4 (C4BQ0)
    BIOCHEMICAL

, which was found in addition.


Potentially fatal hereditary angioedema: a review and case report.

Hereditary angioedema is a disease based upon a biochemical deficiency which may result in sudden and unexpected death principally from respiratory distress due to swelling of the pharyngeal tissues. Dental treatment is not an uncommon initiator of such edema. To perform dental care safely, it is necessary to understand the etiology, diagnosis, and treatment of the condition. This article presents a review of these features, and indicates via a case report how knowledge of them was essential in conducting safe, effective and efficient dental treatment.

    Hereditary angioedema
    DIAGNOSIS

 is a disease based upon a

    biochemical deficiency
    BIOCHEMICAL

 which may result in

    sudden and unexpected death
    SYMPTOMS

 principally from

    respiratory distress
    SYMPTOMS

 due to

    swelling of the pharyngeal tissues
    SYMPTOMS

.

    Dental treatment
    MEDICATION

 is not an uncommon initiator of such

    edema
    SYMPTOMS

. To perform

    dental care
    MEDICATION

 safely, it is necessary to understand the etiology, diagnosis, and treatment of the condition. This article presents a review of these features, and indicates via a case report how knowledge of them was essential in conducting safe, effective and efficient

    dental treatment
    MEDICATION

.

sudden and unexpected death
respiratory distress
swelling of the pharyngeal tissues
edema

Dental treatment
dental care
dental treatment


[Paroxysmal non-hereditary angioedema].

Recurrent hypovolaemic shock had been occurring over the last five and four years, respectively, in a 53-year-old woman and a 46-year-old man who had previously been healthy. The attacks were characterized by a tension feeling and sometimes oedema in the limbs, as well as increased thirst. Within a few hours sweating, tachycardia, orthostatic complaints and shock would occur. The woman's systolic blood pressure would fall to 70 mm Hg and the pulse rate rise to 150/min. The man's blood pressure was not measurable by sphygmomanometer during his first attack. Haematocrit rose to 61 and 71.5%, haemoglobin concentration to 20.7 and 21.3 g/dl, respectively. On administration of plasma expanders all abnormal clinical and biochemical changes quickly disappeared, only to recur within weeks or months. The cause of the condition is an increased permeability of the tissue capillaries, while renal, pulmonary and cerebral vessels apparently are unaffected. During ketotifen and tebonin (gingko biloba extract) administration to the man, he required no further hospitalization for nine months, after which he had three severe attacks. The woman had a severe attack of hypovolaemic shock one month on this treatment. The prognosis of capillary leak syndrome is bad.

    Recurrent hypovolaemic shock
    SYMPTOMS

 had been occurring over the last five and four years, respectively, in a

    53-year-old
    AGE

    woman
    GENDER

 and a

    46-year-old
    AGE

    man
    GENDER

 who had previously been healthy. The attacks were characterized by a

    tension feeling
    SYMPTOMS

 and sometimes

    oedema in the limbs
    SYMPTOMS

, as well as

    increased thirst
    SYMPTOMS

. Within a few hours

    sweating
    SYMPTOMS

,

    tachycardia
    SYMPTOMS

,

    orthostatic complaints
    SYMPTOMS

 and

    shock
    SYMPTOMS

 would occur. The

    woman
    GENDER

's

    systolic blood pressure would fall to 70 mm Hg
    SYMPTOMS

 and the

    pulse rate rise to 150/min
    SYMPTOMS

. The

    man
    GENDER

's

    blood pressure was not measurable by sphygmomanometer
    NEG_FINDINGS

 during his first attack.

    Haematocrit rose to 61 and 71.5%
    BIOCHEMICAL

,

    haemoglobin concentration to 20.7 and 21.3 g/dl, respectively
    BIOCHEMICAL

. On

    administration of plasma expanders
    MEDICATION

 all

    abnormal clinical and biochemical changes quickly disappeared
    SYMPTOMS

, only to recur within weeks or months. The cause of the condition is an

    increased permeability of the tissue capillaries
    MICROSCOPIC

, while

    renal, pulmonary and cerebral vessels apparently are unaffected
    NEG_FINDINGS

. During

    ketotifen and tebonin (gingko biloba extract) administration
    MEDICATION

 to the

    man
    GENDER

,

    he
    GENDER

 required

    no further hospitalization for nine months
    MEDICATION

, after which

    he
    GENDER

 had

    three severe attacks
    SYMPTOMS

. The

    woman
    GENDER

 had a

    severe attack of hypovolaemic shock
    SYMPTOMS

 one month on this treatment. The prognosis of

    capillary leak syndrome
    DIAGNOSIS

 is bad.


[Clinical contribution to the problem of correlations between hereditary angioneurotic edema and pregnancy].

Hereditary angioneurotic edema (HAE) is an autosomal dominant disease caused by a deficiency of a complement regulatory protein, the C1INH.HAE is clinically characterized by recurrent, self-limited attacks of edema involving the extremities, face, upper respiratory tract or gastrointestinal tract. Pregnancy in a woman affected by HAE poses therapeutical problems. In fact, prophylactic treatment with danazole or tranexamic acid is control indicated in a pregnant woman. However HAE shows a favourable course in most cases and the delivery, despite the local trauma, is not usually associated with complications. But the occasional occurrence of local edema and the literature report of a death in postpartum, suggest the administration of purified C1INH prophylactically before the delivery. HAE, per sé, neither alters the evolution of pregnancy nor does foetus harm. The A. report on a 22-years old primigravida affected by HAE. She had no attack during the whole gestation, the delivery and the postpartum. She was given 1000 units of purified C1INH concentrate both four hours before the delivery and 24 hours after it.

    Hereditary angioneurotic edema (HAE)
    DIAGNOSIS

 is an

    autosomal dominant disease
    GENETICS

 caused by a deficiency of a complement regulatory protein, the C1INH.HAE is clinically characterized by

    recurrent, self-limited attacks of edema involving the extremities, face, upper respiratory tract or gastrointestinal tract
    SYMPTOMS

.

    Pregnancy
    DIAGNOSIS

 in a

    woman
    GENDER

 affected by

    HAE
    DIAGNOSIS

 poses therapeutical problems. In fact,

    prophylactic treatment with danazole or tranexamic acid
    MEDICATION

 is control indicated in a

    pregnant
    AGE

    woman
    GENDER

. However

    HAE
    DIAGNOSIS

 shows a favourable course in most cases and the delivery,

    despite the local trauma
    NEG_FINDINGS

, is

    not usually associated with complications
    NEG_FINDINGS

. But the occasional occurrence of

    local edema
    SYMPTOMS

 and the literature report of a

    death
    SYMPTOMS

 in

    postpartum
    SYMPTOMS

, suggest the

    administration of purified C1INH prophylactically before the delivery
    MEDICATION

.

    HAE
    DIAGNOSIS

, per sé,

    neither alters the evolution of pregnancy nor does foetus harm
    NEG_FINDINGS

. The A. report on a

    22-years old
    AGE

    primigravida
    GENDER

 affected by

    HAE
    DIAGNOSIS

.

    She
    GENDER

 had

    no attack during the whole gestation
    NEG_FINDINGS

, the delivery and the

    postpartum
    SYMPTOMS

.

    She
    GENDER

 was

    given 1000 units of purified C1INH concentrate both four hours before the delivery and 24 hours after it
    MEDICATION

.

Hereditary angioneurotic edema (HAE)
Pregnancy
HAE
HAE
HAE
HAE


Discoid lupus erythematosus associated with hereditary angioneurotic oedema.

A female patient developed discoid lupus erythematosus 6 years after the onset of hereditary angioneurotic oedema. Treatment with danazol for 18 months cleared both conditions and was well tolerated.

A

    female
    GENDER

 patient developed

    discoid lupus erythematosus
    DIAGNOSIS

 6 years after the onset of

    hereditary angioneurotic oedema
    SYMPTOMS

.

    Treatment with danazol for 18 months
    MEDICATION

 cleared both conditions and was well tolerated.


Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

A new reactive-centre P1 residue mutation (444Arg----Ser), has been identified in a dysfunctional C1 inhibitor protein, C1 inhibitor(Ba), contained in a type II hereditary angioedema plasma. This substitution is compatible with a point mutation of the 444Arg codon (CGC----AGC), and represents the first non-histidine, non-cysteine P1 residue mutant described for C1 inhibitor.

A

    new reactive-centre P1 residue mutation (444Arg----Ser)
    GENETICS

, has been identified in a

    dysfunctional C1 inhibitor protein, C1 inhibitor(Ba)
    BIOCHEMICAL

, contained in a

    type II hereditary angioedema plasma
    DIAGNOSIS

. This

    substitution is compatible with a point mutation of the 444Arg codon (CGC----AGC)
    GENETICS

, and represents the first

    non-histidine, non-cysteine P1 residue mutant
    GENETICS

 described for

    C1 inhibitor
    BIOCHEMICAL

.


Angioedema related to angiotensin-converting enzyme inhibitors.

Angioedema is a disorder characterized by well-demarcated nonpitting edema involving the tongue, floor of the mouth, larynx, lips, and face. This condition can progress to upper airway obstruction and death. Angiotensin-converting enzyme inhibitors (ACEIs), relatively new antihypertensive agents, act by blocking the formation of angiotensin II, a potent vasoconstrictor and stimulator of aldosterone formation. ACEIs also retard the breakdown of bradykinin, a potent vasodilator, which may lead to the edema seen in nonhereditary angioedema. These ACEIs include enalapril, captopril, lisinopril, saralasin acetate, and a combination of ACEI with diuretics (for example, Capozide). From August 1987 to January 1989, we treated six patients with a nonhereditary form of angioedema related to ingestion of angiotensin-converting enzyme inhibitors. Symptoms developed in all patients within 12 hours after their initial dose of an ACEI. They presented with shortness of breath and dysphagia associated with tongue and floor of the mouth edema. Two of the six required intubation and monitoring in the surgical intensive care unit for 36 to 48 hours. Three required supportive treatment and observation in an intermediate care unit, and one received supportive care in the clinic and was discharged the same day. Specifically, treatment consisted of cessation of inciting agent, steroids, antihistamines, and epinephrine, if not otherwise contraindicated. Assays of C1 esterase inhibitor levels and C4 were normal in all six patients; this was important in order to rule out hereditary forms of angioedema. These cases will be discussed, including a review of the literature, methods of diagnosis, pathophysiology, and treatment of angioedema.

    Angioedema
    DIAGNOSIS

 is a disorder characterized by

    well-demarcated nonpitting edema involving the tongue, floor of the mouth, larynx, lips, and face
    SYMPTOMS

. This condition can progress to

    upper airway obstruction
    SYMPTOMS

 and

    death
    SYMPTOMS

.

    Angiotensin-converting enzyme inhibitors (ACEIs)
    MEDICATION

, relatively new

    antihypertensive agents
    MEDICATION

, act by

    blocking the formation of angiotensin II
    BIOCHEMICAL

, a

    potent vasoconstrictor and stimulator of aldosterone formation
    BIOCHEMICAL

.

    ACEIs
    MEDICATION

 also

    retard the breakdown of bradykinin, a potent vasodilator
    BIOCHEMICAL

, which may lead to the

    edema
    SYMPTOMS

 seen in

    nonhereditary angioedema
    SYMPTOMS

. These

    ACEIs
    MEDICATION

 include

    enalapril, captopril, lisinopril
    MEDICATION

,

    saralasin acetate
    MEDICATION

, and a

    combination of ACEI with diuretics (for example, Capozide)
    MEDICATION

. From August 1987 to January 1989, we treated six patients with a

    nonhereditary form of angioedema
    DIAGNOSIS

 related to

    ingestion of angiotensin-converting enzyme inhibitors
    MEDICATION

. Symptoms developed in all patients within 12 hours after their

    initial dose of an ACEI
    MEDICATION

. They presented with

    shortness of breath
    SYMPTOMS

 and

    dysphagia
    SYMPTOMS

 associated with

    tongue and floor of the mouth edema
    SYMPTOMS

. Two of the six required

    intubation and monitoring in the surgical intensive care unit for 36 to 48 hours
    MEDICATION

. Three required

    supportive treatment and observation in an intermediate care unit
    MEDICATION

, and one

    received supportive care in the clinic
    MEDICATION

 and was discharged the same day. Specifically, treatment consisted of

    cessation of inciting agent, steroids, antihistamines, and epinephrine
    MEDICATION

, if not otherwise contraindicated.

    Assays of C1 esterase inhibitor levels and C4 were normal
    NEG_FINDINGS

 in all six patients; this was important in order to rule out

    hereditary forms of angioedema
    NEG_FINDINGS

. These cases will be discussed, including a review of the literature, methods of diagnosis, pathophysiology, and treatment of

    angioedema
    DIAGNOSIS

.

Angioedema
nonhereditary form of angioedema
angioedema


[Treatment of hereditary angioedema].

Hereditary angioedema is a rare familial disease caused by the defect of complement C1esterase inhibitor (C1-INH). It is characterized by recurrent acute edema of the extremities, the face, the respiratory tract and the gastrointestinal tract. Acute laryngeal edema usually produces laryngeal obstruction. Two cases have been treated since 1986, one of them had been admitted for forty-five times because of recurrent acute laryngeal edema. Investigations showed two families with a high incidence of this disease. Laboratory examination showed a remarkable decrease of C1-INH and C4. Tracheotomy is indicated in patients with laryngeal edema. Great success was achieved in two patients treated with danazol.

    Hereditary angioedema
    DIAGNOSIS

 is a

    rare familial disease
    GENETICS

 caused by the

    defect of complement C1esterase inhibitor (C1-INH)
    BIOCHEMICAL

. It is characterized by

    recurrent acute edema of the extremities, the face, the respiratory tract and the gastrointestinal tract
    SYMPTOMS

.

    Acute laryngeal edema
    SYMPTOMS

 usually produces

    laryngeal obstruction
    SYMPTOMS

. Two cases have been treated since 1986, one of them had been admitted for forty-five times because of

    recurrent acute laryngeal edema
    SYMPTOMS

. Investigations showed

    two families with a high incidence of this disease
    FAMILY

.

    Laboratory examination
    PARACLINICAL

 showed a

    remarkable decrease of C1-INH and C4
    BIOCHEMICAL

.

    Tracheotomy
    MEDICATION

 is indicated in patients with

    laryngeal edema
    SYMPTOMS

. Great success was achieved in two patients treated with

    danazol
    MEDICATION

.


Hereditary angioedema: diagnosis and management.

Hereditary angioedema is a rare autosomal dominant disorder due to the deficiency of functionally active C1-inhibitor. It is characterised by recurrent episodes of subcutaneous and mucosal edema. We report a case of hereditary angioedema presenting with the classic features of recurrent swelling of the extremities, abdominal pain and laryngeal edema. Serum complement C3 level was normal but C4 was low. She responded well to danazol and had no further attacks of angioedema.

    Hereditary angioedema
    DIAGNOSIS

 is a

    rare autosomal dominant disorder
    GENETICS

 due to the

    deficiency of functionally active C1-inhibitor
    BIOCHEMICAL

. It is characterised by

    recurrent episodes of subcutaneous and mucosal edema
    SYMPTOMS

. We report a case of

    hereditary angioedema
    DIAGNOSIS

 presenting with the classic features of

    recurrent swelling of the extremities
    SYMPTOMS

,

    abdominal pain
    SYMPTOMS

 and

    laryngeal edema
    SYMPTOMS

.

    Serum complement C3 level was normal
    NEG_FINDINGS

 but

    C4 was low
    BIOCHEMICAL

.

    She
    GENDER

 responded well to

    danazol
    MEDICATION

 and had

    no further attacks of angioedema
    NEG_FINDINGS

.

Hereditary angioedema
hereditary angioedema

Serum complement C3 level was normal
no further attacks of angioedema


Hereditary angioedema: therapeutic effect of danazol on C4 and C1 esterase inhibitors.

Hereditary angioedema (HAE) is an inherited deficiency of C1 esterase inhibitor (C1 inh). The two types of genetic C1 inh deficiency are type I, which is quantitative, and type II, which is functional. For the purpose of the present study, four HAE patients were selected. None of them had received any androgenic therapy. The group included three type I and one type II cases. All patients that entered the protocol received danazol, 400 mg/day for 14 days. The complement system was evaluated by monitoring C4, hemolytic complement 50% (CH50), circulating immune complexes (CIC), and antigenic and functional C1 inh during the study. The level of complement factors at the beginning and at the end of this period demonstrated a statistically significant increase in C4 and CH50 and the disappearance of CIC, while C1 inh remained unmodified. These results suggest that the therapeutic effect of danazol may have two mechanisms of action: (1) promotion of C4 synthesis by anabolic effect resulting in an improvement of the complement system with the disappearance of CIC and (2) a minor increase in C1 inh level primarily due to the lack of its consumption.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is an

    inherited
    GENETICS

    deficiency of C1 esterase inhibitor (C1 inh)
    BIOCHEMICAL

. The two types of

    genetic C1 inh deficiency
    GENETICS

 are

    type I
    DIAGNOSIS

, which is quantitative, and

    type II
    DIAGNOSIS

, which is functional. For the purpose of the present study, four

    HAE
    DIAGNOSIS

 patients were selected.

    None
    NEG_FINDINGS

 of them

    had received any androgenic therapy
    NEG_FINDINGS

. The group included three

    type I
    DIAGNOSIS

 and one

    type II
    DIAGNOSIS

 cases. All patients that entered the protocol received

    danazol, 400 mg/day for 14 days
    MEDICATION

. The

    complement system
    BIOCHEMICAL

 was evaluated by

    monitoring C4, hemolytic complement 50% (CH50), circulating immune complexes (CIC), and antigenic and functional C1 inh
    BIOCHEMICAL

 during the study. The

    level of complement factors
    BIOCHEMICAL

 at the beginning and at the end of this period demonstrated a

    statistically significant increase in C4 and CH50 and the disappearance of CIC
    BIOCHEMICAL

, while

    C1 inh remained unmodified
    BIOCHEMICAL

. These results suggest that the therapeutic effect of

    danazol
    MEDICATION

 may have two mechanisms of action: (1)

    promotion of C4 synthesis by anabolic effect
    BIOCHEMICAL

 resulting in an

    improvement of the complement system
    BIOCHEMICAL

 with the

    disappearance of CIC
    BIOCHEMICAL

 and (2) a

    minor increase in C1 inh level
    BIOCHEMICAL

 primarily due to the

    lack of its consumption
    BIOCHEMICAL

.

Hereditary angioedema (HAE)
type I
type II
HAE
type I
type II


[Long-term danazol therapy for hereditary angioedema].

Three patients with hereditary angio-oedema, two men of 19 and 35 years and a woman of 69 years, have been treated for 10 years with danazol, an androgen preparation with diminished androgenic effects. The 19-year-old man started taking it at the age of nine years and continued throughout puberty. Maintenance therapy with 200 mg twice a week, together with occasional booster doses of 200 mg daily, started at the age of 16 years and given when required cut the frequency of attacks from one a week to roughly six a year and greatly reduced their severity. Sexual maturation was entirely normal. The 35-year-old man, who had previously had three severe attacks a week, became symptom-free on a dose of 200 mg four or five times a week. During treatment he fathered a healthy child. The 69-year-old woman had had attacks every four weeks after the menopause, but obtained complete relief from a dose of 200 mg six times weekly. C1-Esterase inhibitor--originally depressed to around 30% of normal in all these patients--rose to about 50% during treatment. Endocrine, metabolic and toxic side-effects were minimal.

Three patients with

    hereditary angio-oedema
    DIAGNOSIS

, two

    men
    GENDER

 of

    19 and 35 years
    AGE

 and a

    woman
    GENDER

 of

    69 years
    AGE

, have been treated for 10 years with

    danazol, an androgen preparation
    MEDICATION

 with

    diminished androgenic effects
    SYMPTOMS

. The

    19-year-old
    AGE

    man
    GENDER

 started

    taking it
    MEDICATION

 at the

    age of nine years
    AGE

 and continued throughout

    puberty
    AGE

.

    Maintenance therapy with 200 mg twice a week, together with occasional booster doses of 200 mg daily
    MEDICATION

, started at the

    age of 16 years
    AGE

 and given when required cut the frequency

    of attacks from one a week to roughly six a year
    SYMPTOMS

 and greatly reduced their severity.

    Sexual maturation was entirely normal
    NEG_FINDINGS

. The

    35-year-old
    AGE

    man
    GENDER

, who had previously had

    three severe attacks a week
    SYMPTOMS

, became

    symptom-free
    NEG_FINDINGS

 on a

    dose of 200 mg four or five times a week
    MEDICATION

. During treatment

    he
    GENDER

    fathered a healthy child
    FAMILY

. The

    69-year-old
    AGE

    woman
    GENDER

 had had

    attacks every four weeks after the menopause
    SYMPTOMS

, but obtained

    complete relief
    SYMPTOMS

 from a

    dose of 200 mg six times weekly
    MEDICATION

.

    C1-Esterase inhibitor--originally depressed to around 30% of normal
    BIOCHEMICAL

 in all these patients

    --rose to about 50%
    BIOCHEMICAL

 during treatment.

    Endocrine, metabolic and toxic side-effects
    SYMPTOMS

 were minimal.

Sexual maturation was entirely normal
symptom-free


Acquired C1 inhibitor deficiency: postmortem diagnosis.

Acquired C1 esterase inhibitor deficiency is a clinical syndrome closely resembling hereditary angioedema in which most patients have an associated malignancy of B cell lineage. Sera from 33 patients with B cell neoplasms were assayed for C1 esterase inhibitor level by rocket immunoelectrophoresis. The clinical summary of a patient who met the biochemical criteria for acquired C1 esterase inhibitor deficiency (low C1 esterase inhibitor, low C4) is presented. We hypothesize that this syndrome represents an autoimmune reaction involving tumor cell rejections and of potential benefit to the patient.

    Acquired C1 esterase inhibitor deficiency
    BIOCHEMICAL

 is a clinical syndrome closely resembling

    hereditary angioedema
    DIAGNOSIS

 in which most patients have an associated

    malignancy of B cell lineage
    DIAGNOSIS

. Sera from 33 patients with

    B cell neoplasms
    DIAGNOSIS

 were

    assayed for C1 esterase inhibitor level
    BIOCHEMICAL

 by

    rocket immunoelectrophoresis
    PARACLINICAL

. The clinical summary of a patient who met the biochemical criteria for

    acquired C1 esterase inhibitor deficiency
    BIOCHEMICAL

 (

    low C1 esterase inhibitor, low C4)
    BIOCHEMICAL

 is presented. We hypothesize that this syndrome represents an

    autoimmune reaction involving tumor cell rejections
    SYMPTOMS

 and of potential benefit to the patient.

hereditary angioedema
malignancy of B cell lineage
B cell neoplasms


[Hereditary angioneurotic edema and pregnancy].

Hereditary angioneurotic oedema (HANE) is an autosomal dominant disorder, relatively uncommon, in which patients experience recurrent bouts of oedema of the extremities, face and larynx. Attacks of HANE, sometimes fatal when involving the larynx may, among other causes, be triggered by the anesthetist's manipulation of the upper airway (tracheal intubation). HANE may affect women during their reproductive years and present serious problems in case of pregnancy. Labour can precipitate laryngeal oedema in case of general anesthesia with tracheal intubation indicated for a caesarean section or a forceps delivery, and/or perineal oedema after delivery. The authors describe a vaginal delivery in a patient with HANE that was accomplished under lumbar epidural anesthesia. No laryngeal or perineal attack was noted. This review article describes various treatments and discusses the features relevant and specific to pregnancy.

    Hereditary angioneurotic oedema (HANE)
    DIAGNOSIS

 is an

    autosomal dominant disorder
    GENETICS

, relatively uncommon, in which patients experience

    recurrent bouts of oedema of the extremities, face and larynx
    SYMPTOMS

.

    Attacks of HANE
    SYMPTOMS

, sometimes

    fatal when involving the larynx
    SYMPTOMS

 may, among other causes, be triggered by the

    anesthetist
    PARACLINICAL

's

    manipulation of the upper airway (tracheal intubation)
    MEDICATION

.

    HANE
    DIAGNOSIS

 may affect

    women
    GENDER

    during their reproductive years
    AGE

 and present serious problems in case of

    pregnancy
    DIAGNOSIS

. Labour can precipitate

    laryngeal oedema
    SYMPTOMS

 in case of

    general anesthesia with tracheal intubation
    MEDICATION

 indicated for a

    caesarean section or a forceps delivery
    MEDICATION

, and/or

    perineal oedema
    SYMPTOMS

 after

    delivery
    MEDICATION

. The authors describe a

    vaginal delivery
    MEDICATION

 in a patient with

    HANE
    DIAGNOSIS

 that was accomplished under

    lumbar epidural anesthesia
    MEDICATION

.

    No laryngeal or perineal attack was noted
    NEG_FINDINGS

. This review article describes various treatments and discusses the features relevant and specific to

    pregnancy
    DIAGNOSIS

.

Hereditary angioneurotic oedema (HANE)
HANE
pregnancy
HANE
pregnancy


[A combination of chronic kidney failure with hereditary angioedema].

A case of a woman with a hereditary angioedema in combination with chronic renal failure is presented. The chronic renal failure is a late consequence of complications which had occurred in the course of a difficult parturition. The difficult parturition was probably the result of an expressed edema of the vaginal wall. The therapeutic difficulties in this case are pointed out.

A case of a

    woman
    GENDER

 with a

    hereditary angioedema
    DIAGNOSIS

 in combination with

    chronic renal failure
    SYMPTOMS

 is presented. The

    chronic renal failure
    SYMPTOMS

 is a late consequence of complications which had occurred in the course of a

    difficult parturition
    SYMPTOMS

. The

    difficult parturition
    SYMPTOMS

 was probably the result of an

    expressed edema of the vaginal wall
    SYMPTOMS

. The therapeutic difficulties in this case are pointed out.

chronic renal failure
chronic renal failure
difficult parturition
difficult parturition
expressed edema of the vaginal wall


Immunoblotting of plasma in a pregnant patient with hereditary angioedema.

Hereditary angioedema (HAE), an autosomal disorder caused by a deficiency of C1 inhibitor, is characterized by attacks of localized swelling, laryngeal edema, or abdominal pain. Plasma samples from one pregnant patient were studied serially by functional and quantitative immunochemical assays as well as immunoblot assays for high molecular weight kininogen (HMWK) and/or prekallikrein/kallikrein (PK/K). An immunoblot of this patient's HMWK from plasma obtained before she became pregnant and when she was well revealed that it was mostly an intact protein of 120 kd, similar to immunoblot results of normal plasma HMWK. In plasma samples taken throughout her pregnancy, before, during, and after clinical attacks of angioedema, all of her plasma HMWK was shown to be cleaved into the 45 kd light chain form. After delivery of the infant the 120 kd form of intact plasma HMWK returned to her plasma. In comparison, immunoblot studies on 21 normal and abnormal pregnancies revealed that plasma HMWK was an intact protein at 120 kd. That this patient's plasma during her pregnancy was contact activated was determined by additional immunoblot studies for PK/K. Immunoblot assay for plasma PK/K revealed kallikrein-alpha 2-macroglobulin complexes and a 50 kd PK/K form seen only in activated plasma samples. The findings of kallikrein-alpha 2-macroglobulin complexes and a 50 kd PK/K form disappeared after delivery. These combined studies on this patient show that the structures of HMWK and prekallikrein as indicated by immunoblot assays were altered during pregnancy. Immunoblot assays for detection of changes in the structure of HMWK and prekallikrein may be objective laboratory studies for documenting clinical attacks of hereditary angioedema, their onset, and their resolution.

    Hereditary angioedema (HAE)
    DIAGNOSIS

, an

    autosomal disorder
    GENETICS

 caused by a

    deficiency of C1 inhibitor
    BIOCHEMICAL

, is characterized by attacks of

    localized swelling
    SYMPTOMS

,

    laryngeal edema
    SYMPTOMS

, or

    abdominal pain
    SYMPTOMS

. Plasma samples from one

    pregnant
    AGE

 patient were studied serially by

    functional and quantitative immunochemical assays
    PARACLINICAL

 as well as

    immunoblot assays for high molecular weight kininogen (HMWK) and/or prekallikrein/kallikrein (PK/K)
    PARACLINICAL

. An

    immunoblot of
    PARACLINICAL

 this patient's

    HMWK from plasma
    BIOCHEMICAL

 obtained before

    she
    GENDER

 became

    pregnant
    MEDICATION

 and when

    she
    GENDER

 was well revealed that it was

    mostly an intact protein of 120 kd
    BIOCHEMICAL

, similar to

    immunoblot results of normal plasma HMWK
    BIOCHEMICAL

. In plasma samples taken throughout her

    pregnancy
    AGE

, before, during, and after

    clinical attacks of angioedema
    SYMPTOMS

,

    all of her plasma HMWK was shown to be cleaved into the 45 kd light chain form
    BIOCHEMICAL

. After

    delivery of the infant
    MEDICATION

    the 120 kd form of intact plasma HMWK returned to her plasma
    BIOCHEMICAL

. In comparison,

    immunoblot studies
    PARACLINICAL

 on 21 normal and

    abnormal pregnancies
    DIAGNOSIS

 revealed that

    plasma HMWK was an intact protein at 120 kd
    BIOCHEMICAL

. That this patient's

    plasma during her pregnancy
    BIOCHEMICAL

    was contact activated
    BIOCHEMICAL

 was determined by additional immunoblot studies for PK/K.

    Immunoblot assay for plasma PK/K
    PARACLINICAL

 revealed

    kallikrein-alpha 2-macroglobulin complexes and a 50 kd PK/K form seen only in activated plasma samples
    BIOCHEMICAL

. The

    findings of kallikrein-alpha 2-macroglobulin complexes and a 50 kd PK/K form disappeared
    BIOCHEMICAL

 after

    delivery
    MEDICATION

. These combined studies on this patient show that the

    structures of HMWK and prekallikrein
    BIOCHEMICAL

 as indicated by

    immunoblot assays
    PARACLINICAL

 were altered during

    pregnancy
    DIAGNOSIS

.

    Immunoblot assays
    PARACLINICAL

 for detection of

    changes in the structure of HMWK and prekallikrein
    BIOCHEMICAL

 may be objective laboratory studies for documenting clinical attacks of

    hereditary angioedema
    DIAGNOSIS

, their onset, and their resolution.

Hereditary angioedema (HAE)
abnormal pregnancies
pregnancy
hereditary angioedema

localized swelling
laryngeal edema
abdominal pain
clinical attacks of angioedema

pregnant
delivery of the infant
delivery


Angioedema with acquired deficiency of the C1 inhibitor: a constellation of syndromes.

Patients with angioedema are often referred to an allergist to rule out an allergic cause. In most of these cases, no allergic cause is identified, and the cases are labeled "idiopathic." Occasionally, a deficiency of the inhibitor of the first component of complement (C1INH) is discovered, which may be either hereditary or acquired. In comparison with the hereditary variant, the acquired deficiency of C1INH is extremely rare, approximately 40 cases having been reported to date. Measurement of the C1q subunit is the key to the differential diagnosis between hereditary and acquired deficiencies of C1INH--it is normal in the former and decreased in the latter. The acquired deficiency of C1INH is usually found in association with benign or malignant B-cell lymphoproliferative disorders, and the angioedema responds to therapy with androgens. A subset of six patients with acquired C1INH deficiency has been reported recently; they had anti-C1INH autoantibodies, no evidence of an underlying disease, a benign course, and variable responses to therapy. Two new cases of angioedema in patients with acquired C1INH deficiency are described in this report. One patient had no evidence of an underlying disease 11 years after the onset of angioedema. The other case was associated with a B-cell lymphoproliferative disorder that became evident 9 months after C1INH deficiency was diagnosed, and androgen therapy stopped the attacks of angioedema. In this second case, the functional activity of C1INH mirrored the clinical response to therapy.

Patients with

    angioedema
    SYMPTOMS

 are often referred to an

    allergist
    PARACLINICAL

 to

    rule out an allergic cause
    NEG_FINDINGS

. In most of these cases,

    no allergic cause is identified
    NEG_FINDINGS

, and the cases are labeled "

    idiopathic
    DIAGNOSIS

." Occasionally, a

    deficiency of the inhibitor of the first component of complement (C1INH)
    BIOCHEMICAL

 is discovered, which may be either

    hereditary
    GENETICS

 or acquired. In comparison with the hereditary variant, the

    acquired deficiency of C1INH
    BIOCHEMICAL

 is extremely rare, approximately 40 cases having been reported to date.

    Measurement of the C1q subunit
    BIOCHEMICAL

 is the key to the

    differential diagnosis
    PARACLINICAL

 between hereditary and

    acquired deficiencies of C1INH
    BIOCHEMICAL

--

    it is normal
    BIOCHEMICAL

 in the former and

    decreased
    BIOCHEMICAL

 in the latter. The

    acquired deficiency of C1INH
    BIOCHEMICAL

 is usually found in association with

    benign or malignant B-cell lymphoproliferative disorders
    DIAGNOSIS

, and the

    angioedema
    SYMPTOMS

 responds to

    therapy with androgens
    MEDICATION

. A subset of six patients with

    acquired C1INH deficiency
    BIOCHEMICAL

 has been reported recently; they had

    anti-C1INH autoantibodies
    BIOCHEMICAL

,

    no evidence of an underlying disease
    NEG_FINDINGS

, a

    benign course
    SYMPTOMS

, and

    variable responses to therapy
    NEG_FINDINGS

. Two new cases of

    angioedema
    SYMPTOMS

 in patients with

    acquired C1INH deficiency
    BIOCHEMICAL

 are described in this report. One patient had

    no evidence of an underlying disease 11 years after the onset of angioedema
    NEG_FINDINGS

. The other case was associated with a

    B-cell lymphoproliferative disorder
    DIAGNOSIS

 that became evident 9 months after

    C1INH deficiency
    BIOCHEMICAL

 was diagnosed, and

    androgen therapy
    MEDICATION

    stopped the attacks of angioedema
    SYMPTOMS

. In this second case, the

    functional activity of C1INH
    BIOCHEMICAL

 mirrored the clinical response to therapy.

angioedema
angioedema
benign course
angioedema
stopped the attacks of angioedema


[Hereditary angioedema due to C1-esterase inhibitor deficiency].

The paper presents a case of family oedema by shortage of C1-esterase inhibitor, characterized by appearance at an early age (8 months), participation in some attacks of nasal mucous membrane, with nasal obstruction and sinusal manifestations and also the abnormally long period, up to 9 days, of some localized oedemas. The crises were absent during pregnancy. The study of four generations of the family showed the predominantly hereditary character of the genetic transmission. Two cases in which the disease apparently "overleapt" a generation, as clinical manifestations, were presented.

The paper presents a case of

    family oedema
    SYMPTOMS

 by

    shortage of C1-esterase inhibitor
    BIOCHEMICAL

, characterized by appearance

    at an early age (8 months)
    AGE

,

    participation in some attacks of nasal mucous membrane, with nasal obstruction
    SYMPTOMS

 and

    sinusal manifestations
    SYMPTOMS

 and also the

    abnormally long period, up to 9 days, of some localized oedemas
    SYMPTOMS

. The

    crises
    SYMPTOMS

 were

    absent during pregnancy
    NEG_FINDINGS

. The

    study of four generations of the family
    FAMILY

 showed the

    predominantly hereditary character of the genetic transmission
    FAMILY

. Two cases in which the disease apparently "overleapt" a generation, as clinical manifestations, were presented.


[A case of hereditary angioneurotic edema associated with systemic lupus erythematosus].

A 33-year-old woman noticed recurrent and sudden attacks of subcutaneous swelling of the extremities and face since the age of 4 years. Sometimes the attacks involved colicky abdominal pain. Her mother and younger sister had episodes of recurrent swelling of the extremities as well. Complement studies revealed low CH50, C1q, C4, and C1 inhibitor levels, with normal C3 and C5 levels. Similar reductions of CH50 C4 and C1 inhibitor levels were observed in her mother, older, and younger sisters. Therefore, she was diagnosed as hereditary angioneurotic edema. In addition, she was diagnosed as having a butterfly rash at the age of 20 years and had a history of solar sensitivity. Histologically the facial lesion showed liquefaction degeneration of the basal cell layer. Direct immunofluorescent staining of the affected skin lesion showed basement membrane-zone staining of IgG and IgM. Laboratory studies revealed lymphopenia and positive ANF. On the basis of the above findings, hereditary angioneurotic edema associated with systemic lupus erythematosus was diagnosed.

A

    33-year-old
    AGE

    woman
    GENDER

 noticed

    recurrent and sudden attacks of subcutaneous swelling of the extremities and face
    SYMPTOMS

 since the

    age of 4 years
    AGE

. Sometimes the attacks involved

    colicky abdominal pain
    SYMPTOMS

.

    Her
    GENDER

    mother and younger sister had episodes of recurrent swelling of the extremities
    FAMILY

    as well
    FAMILY

.

    Complement studies
    PARACLINICAL

 revealed

    low CH50, C1q, C4, and C1 inhibitor levels
    BIOCHEMICAL

, with

    normal C3 and C5 levels
    BIOCHEMICAL

.

    Similar reductions of CH50 C4 and C1 inhibitor levels were observed in her mother, older, and younger sisters
    FAMILY

. Therefore,

    she
    GENDER

 was diagnosed as

    hereditary angioneurotic edema
    DIAGNOSIS

. In addition,

    she
    GENDER

 was diagnosed as having a

    butterfly rash
    SYMPTOMS

    at the age of 20 years
    AGE

 and had a

    history of solar sensitivity
    FAMILY

. Histologically the

    facial lesion
    SYMPTOMS

 showed

    liquefaction degeneration of the basal cell layer
    MICROSCOPIC

.

    Direct immunofluorescent staining of the affected skin lesion
    PARACLINICAL

 showed basement membrane-zone staining of IgG and IgM.

    Laboratory studies
    PARACLINICAL

 revealed

    lymphopenia
    BIOCHEMICAL

 and

    positive ANF
    BIOCHEMICAL

. On the basis of the above findings,

    hereditary angioneurotic edema associated with systemic lupus erythematosus
    DIAGNOSIS

 was diagnosed.


[Hereditary angioedema. Effect of danazol on C4 and functional C1INH].

Hereditary angioedema (HAE) is an inherited deficiency of the inhibitor of C1 esterase (C1 inh). Two types of genetic C1 inh deficiency have been described, type I: quantitative, and type II: functional. For the purpose of the present study, 4 out of 51 HAE patients were selected. None of them had received any previous androgenic therapy. The group was integrated by two type I and one type II cases. All patients that entered in the protocol received 400 mg/day of danazol over 14 days. The complement system was evaluated by monitoring C4, Hemolytic complement 50% (CH50), Circulating Immune Complexes (CIC), and antigenic and functional C1 INH during the study. The level of the complement factors at the beginning and the end of this period demonstrated a statistically significant increase of C4 and CH50 and the disappearance of CIC, while C1INH remained unmodified. These results suggest that the therapeutic effect of Danazol may have two mechanisms of action: i. promotion of C4 synthesis by anabolic effect resulting in an improvement of the complement system with the disappearance of CIC, and ii, a minor increase of C1 inh level primarily due to the lack of its consumption.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is an

    inherited
    GENETICS

    deficiency of the inhibitor of C1 esterase (C1 inh)
    BIOCHEMICAL

. Two types of

    genetic C1 inh deficiency
    GENETICS

 have been described,

    type I:
    DIAGNOSIS

 quantitative, and

    type II:
    DIAGNOSIS

 functional. For the purpose of the present study, 4 out of 51

    HAE
    DIAGNOSIS

 patients were selected.

    None
    NEG_FINDINGS

 of them

    had received any previous androgenic therapy
    NEG_FINDINGS

. The group was integrated by two

    type I
    DIAGNOSIS

 and one

    type II
    DIAGNOSIS

 cases. All patients that entered in the protocol received

    400 mg/day of danazol over 14 days
    MEDICATION

. The

    complement system
    BIOCHEMICAL

 was evaluated by

    monitoring C4, Hemolytic complement 50% (CH50), Circulating Immune Complexes (CIC), and antigenic and functional C1 INH
    BIOCHEMICAL

 during the study. The

    level of the complement factors
    BIOCHEMICAL

 at the beginning and the end of this period demonstrated a

    statistically significant increase of C4 and CH50 and the disappearance of CIC
    BIOCHEMICAL

, while

    C1INH remained unmodified
    BIOCHEMICAL

. These results suggest that the therapeutic effect of

    Danazol
    MEDICATION

 may have two mechanisms of action: i.

    promotion of C4 synthesis by anabolic effect
    BIOCHEMICAL

 resulting in an

    improvement of the complement system
    BIOCHEMICAL

 with the

    disappearance of CIC
    BIOCHEMICAL

, and ii, a

    minor increase of C1 inh level
    BIOCHEMICAL

 primarily due to the

    lack of its consumption
    BIOCHEMICAL

.

Hereditary angioedema (HAE)
type I:
type II:
HAE
type I
type II

400 mg/day of danazol over 14 days
Danazol


Glomerulonephritis and hereditary angioedema: report of 2 cases.

Hereditary deficiency of C1 esterase inhibitor (C1 INH) responsible for hereditary angioedema (HAE) is the most common hereditary complement deficiency. HAE has occasionally been reported in association with lupus erythematosus and with glomerulonephritis (GN). We report 2 cases of GN-associated C1 INH deficiency. Renal manifestations have been discovered respectively 6 to 17 years before onset of attacks. Kidney biopsy of the 1st patient showed diffuse proliferative GN with a rare and scattered wire loop pattern whereas the 2nd patient displayed a type I membranoproliferative GN. Chronic renal failure appeared in both cases and the 2nd patient recently received a kidney transplant. The onset of GN in patients with HAE outline the relationship between a genetic deficiency of complement components, the susceptibility to immune complex (IC) disease and the role of complement and its receptors in the elimination of IC.

    Hereditary
    GENETICS

    deficiency of C1 esterase inhibitor (C1 INH)
    BIOCHEMICAL

 responsible for

    hereditary angioedema (HAE)
    DIAGNOSIS

 is the most common

    hereditary
    GENETICS

    complement deficiency
    BIOCHEMICAL

.

    HAE
    DIAGNOSIS

 has occasionally been reported in association with

    lupus erythematosus
    DIAGNOSIS

 and with

    glomerulonephritis (GN)
    DIAGNOSIS

. We report 2 cases of

    GN-associated C1 INH deficiency
    DIAGNOSIS

.

    Renal manifestations
    SYMPTOMS

 have been discovered respectively

    6 to 17 years
    AGE

 before onset of attacks.

    Kidney biopsy
    PARACLINICAL

 of the 1st patient showed

    diffuse proliferative GN with a rare and scattered wire loop pattern
    MICROSCOPIC

 whereas the 2nd patient displayed a

    type I membranoproliferative GN
    DIAGNOSIS

.

    Chronic renal failure
    SYMPTOMS

 appeared in both cases and the 2nd patient

    recently received a kidney transplant
    MEDICATION

. The onset of

    GN
    DIAGNOSIS

 in patients with

    HAE
    DIAGNOSIS

 outline the relationship between a

    genetic deficiency of complement components
    GENETICS

, the susceptibility to

    immune complex (IC) disease
    DIAGNOSIS

 and the role of complement and its receptors in the

    elimination of IC
    BIOCHEMICAL

.

hereditary angioedema (HAE)
HAE
lupus erythematosus
glomerulonephritis (GN)
GN-associated C1 INH deficiency
type I membranoproliferative GN
GN
HAE
immune complex (IC) disease

Renal manifestations
Chronic renal failure


Hereditary angioedema due to deficit of C1 esterase inhibitor.

A case of familial angioedema due to deficit of C1 esterase inhibitor is presented. The case had the following peculiarities: onset at a very early age (8 months); involvement, in some attacks, of the nasal mucosa with nasal obstruction and sinusitis manifestations; unusually long duration (as long as 9 days) of some of the localized edema. The absence of attacks during pregnancy was noted. The family study over 4 generations illustrated the dominant hereditary character of genetical transmission. Attention is drawn on two cases in the family in which the disease apparently skipped one generation from the point of view of clinical signs.

A case of

    familial angioedema
    DIAGNOSIS

 due to

    deficit of C1 esterase inhibitor
    BIOCHEMICAL

 is presented. The case had the following peculiarities:

    onset at a very early age (8 months)
    AGE

;

    involvement,
    SYMPTOMS

 in some attacks

    , of the nasal mucosa with nasal obstruction
    SYMPTOMS

 and

    sinusitis manifestations
    SYMPTOMS

;

    unusually long duration (as long as 9 days) of some of the localized edema
    SYMPTOMS

. The

    absence of attacks during pregnancy
    NEG_FINDINGS

 was noted. The

    family study over 4 generations
    FAMILY

 illustrated the

    dominant hereditary character of genetical transmission
    FAMILY

. Attention is drawn on two cases

    in the family in which the disease apparently skipped one generation
    FAMILY

 from the point of view of clinical signs.


Long-term prophylaxis with C1-inhibitor (C1 INH) concentrate in patients with recurrent angioedema caused by hereditary and acquired C1-inhibitor deficiency.

A case of hereditary angioedema (HAE) type I (inherited C1-inhibitor [C1 INH] deficiency) and a case of late-onset acquired C1 INH with angioedema is described. In both patients, long-term prophylaxis with C1 INH had become necessary because treatment with danazol and epsilon-aminocaproic acid was not effective or not tolerated. Consequently, both patients received a pasteurized concentrate of C1 INH continuously for a period of 1 year in a dosage that kept them free of symptoms. The patient with HAE was administered 500 units of C1 INH intravenously every 4 or 5 days, whereas the patient with acquired angioedema required 1000 units of C1 INH every 5 days. As a result of this long-term prophylaxis, both patients became free or nearly free from their episodes of cutaneous and internal edema. The low plasma levels of C1 INH, C4, and C2, rose. In the patient with acquired C1 INH deficiency, the swellings increasingly reappeared after 10 months, although the patient's antibody titer did not rise during treatment. No side effects were recorded during therapy. In particular, both patients remained HIV and hepatitis B antibody negative.

A case of

    hereditary angioedema (HAE) type I
    DIAGNOSIS

 (

    inherited C1-inhibitor [C1 INH] deficiency
    BIOCHEMICAL

    )
    DIAGNOSIS

 and a case of

    late-onset acquired C1 INH with angioedema
    DIAGNOSIS

 is described. In both patients,

    long-term prophylaxis with C1 INH
    MEDICATION

 had become necessary because

    treatment with danazol and epsilon-aminocaproic acid was not effective or not tolerated
    NEG_FINDINGS

. Consequently, both patients

    received a pasteurized concentrate of C1 INH continuously for a period of 1 year in a dosage
    MEDICATION

 that kept them

    free of symptoms
    NEG_FINDINGS

. The patient with

    HAE
    DIAGNOSIS

 was

    administered 500 units of C1 INH intravenously every 4 or 5 days
    MEDICATION

, whereas the patient with

    acquired angioedema
    DIAGNOSIS

    required 1000 units of C1 INH every 5 days
    MEDICATION

. As a result of this

    long-term prophylaxis
    MEDICATION

, both patients became

    free or nearly free from their episodes of cutaneous and internal edema
    SYMPTOMS

.

    The low plasma levels of C1 INH, C4, and C2, rose
    BIOCHEMICAL

. In the patient with

    acquired C1 INH deficiency
    BIOCHEMICAL

,

    the swellings increasingly reappeared after 10 months
    SYMPTOMS

,

    although the patient's antibody titer did not rise during treatment
    NEG_FINDINGS

.

    No side effects were recorded during therapy
    NEG_FINDINGS

. In particular, both patients remained

    HIV and hepatitis B antibody negative
    NEG_FINDINGS

.


[Computed tomography findings in hereditary angioneurotic edema].

The authors describe the computer tomographic findings in a patient with proven hereditary angioneurotic edema of the gastrointestinal tract with emphasis on differential diagnoses.

The authors describe the

    computer tomographic findings
    PARACLINICAL

 in a patient with proven

    hereditary angioneurotic edema of the gastrointestinal tract
    SYMPTOMS

 with emphasis on

    differential diagnoses
    PARACLINICAL

.


Autoantibody facilitated cleavage of C1-inhibitor in autoimmune angioedema.

C1-inhibitor (C1-Inh) is an important inhibitor of the inflammatory response and deficiency of this inhibitor, which may be hereditary or acquired, is associated with recurrent episodes of edema. Recently, an autoimmune form of angioedema has been described that is associated with functional deficiency of C1-Inh and an autoantibody that impedes C1-Inh function. In this report we describe the isolation of C1-Inh from the monocytes and plasma of a patient with autoimmune angioedema and demonstrate that the patient's monocytes secrete structurally and functionally normal C1-Inh, but show that this protein circulates in the patient's plasma in an inactive, structurally altered form. Furthermore, using analytic gel electrophoresis techniques it is demonstrated that the patient's autoantibody facilitates cleavage of normal C1-Inh, by its target proteases, to the same species of C1-Inh that is found circulating in the patient's plasma. This autoantibody facilitated cleavage of normal C1-Inh is apparently a consequence of destabilization of protease/inhibitor complexes. These findings contribute to our understanding of protease/C1-Inh interactions and document important observations on pathogenic mechanisms in autoimmune disease.

    C1-inhibitor (C1-Inh)
    BIOCHEMICAL

 is an important

    inhibitor of the inflammatory response
    BIOCHEMICAL

 and

    deficiency of this inhibitor
    BIOCHEMICAL

, which may be

    hereditary
    GENETICS

 or acquired, is associated with

    recurrent episodes of edema
    SYMPTOMS

. Recently, an

    autoimmune form of angioedema
    DIAGNOSIS

 has been described that is associated with

    functional deficiency of C1-Inh
    BIOCHEMICAL

 and an

    autoantibody that impedes C1-Inh function
    BIOCHEMICAL

. In this report we describe the

    isolation of C1-Inh from the monocytes and plasma
    BIOCHEMICAL

 of a patient with

    autoimmune angioedema
    DIAGNOSIS

 and demonstrate that the patient's

    monocytes secrete structurally and functionally normal C1-Inh
    BIOCHEMICAL

, but show that this

    protein circulates in the patient's plasma in an inactive, structurally altered form
    BIOCHEMICAL

. Furthermore, using

    analytic gel electrophoresis techniques
    PARACLINICAL

 it is demonstrated that the patient's

    autoantibody facilitates cleavage of normal C1-Inh, by its target proteases, to the same species of C1-Inh that is found circulating in the patient's plasma
    BIOCHEMICAL

. This

    autoantibody facilitated cleavage of normal C1-Inh
    BIOCHEMICAL

 is apparently a consequence of

    destabilization of protease/inhibitor complexes
    BIOCHEMICAL

. These findings contribute to our understanding of

    protease/C1-Inh
    BIOCHEMICAL

 interactions and document important observations on pathogenic mechanisms in

    autoimmune disease
    DIAGNOSIS

.

autoimmune form of angioedema
autoimmune angioedema
autoimmune disease


[A case of hereditary angioneurotic edema provoked by functional insufficiency of C1-inactivator].

The hemolytic activity of complement, the concentration of C1-inactivator, of C1q and C4 components of complement as well as the activity of contact-activated kallikrein and the functional activity of C1-inactivator were studied in the plasma of a female patient with hereditary angioneurotic edema (HAE), of her mother, sister and normal donors. The hemolytic activity of complement, the concentration of C1-inactivator and C1q in the blood plasma of the persons examined turned out unchanged as compared with the same parameters in donors. Meanwhile in the patient with HAE and her mother with symptoms similar to HAE, the concentration of C4 appeared lower than that in the patient's sister not suffering from the disease and in donors. The activity of contact-activated kallikrein in the plasma of the patient's sister and mother exceeded the activity of the enzyme in donors. The least activity of plasma kallikrein was recorded in the proband. The functional activity of C1-inactivator in the proband constituted 50-60% of the activity of that parameter in her sister and donors. The magnitude of the functional activity of C1-inactivator in the patient's mother approximated its magnitude in the proband. Therefore, the development of HAE in the given case was mainly provoked by functional insufficiency of C1-inactivator. The magnitude of the spontaneous TAME-esterase kallikrein-like activity in the blood plasma of the patient with HAE remained within normal.

The

    hemolytic activity of complement, the concentration of C1-inactivator, of C1q and C4 components of complement
    BIOCHEMICAL

 as well as the

    activity of contact-activated kallikrein and the functional activity of C1-inactivator
    BIOCHEMICAL

 were studied in the plasma of a

    female
    GENDER

 patient with

    hereditary angioneurotic edema (HAE)
    DIAGNOSIS

, of her mother, sister and normal donors. The

    hemolytic activity of complement, the concentration of C1-inactivator and C1q in the blood plasma
    BIOCHEMICAL

 of the persons examined

    turned out unchanged
    NEG_FINDINGS

 as compared with the same parameters in donors. Meanwhile in the patient with

    HAE
    DIAGNOSIS

 and

    her
    GENDER

    mother with symptoms similar to HAE
    FAMILY

,

    the concentration of C4 appeared lower than that in the patient's sister not suffering from the disease
    BIOCHEMICAL

 and in donors. The

    activity of contact-activated kallikrein in the plasma of
    BIOCHEMICAL

 the patient's

    sister and mother exceeded the activity of the enzyme in donors
    BIOCHEMICAL

. The

    least activity of plasma kallikrein
    BIOCHEMICAL

 was recorded in the

    proband
    GENDER

. The

    functional activity of C1-inactivator in the proband constituted 50-60% of the activity of that parameter in her sister and donors
    BIOCHEMICAL

. The

    magnitude of the functional activity of C1-inactivator in the
    BIOCHEMICAL

 patient's mother approximated its magnitude in the proband. Therefore, the development of

    HAE
    DIAGNOSIS

 in the given case was mainly provoked by

    functional insufficiency of C1-inactivator
    BIOCHEMICAL

. The

    magnitude of the spontaneous TAME-esterase kallikrein-like activity in the blood plasma
    BIOCHEMICAL

 of the patient with

    HAE
    DIAGNOSIS

    remained within normal
    BIOCHEMICAL

.

hereditary angioneurotic edema (HAE)
HAE
HAE
HAE


Hereditary angioedema associated with subacute cutaneous lupus erythematosus.

The increased occurrence of various autoimmune diseases has recently been reported in patients with hereditary angioedema (HAE). This is especially the case in different forms of lupus erythematosus, but also other autoimmune diseases. We report a 24-year-old female patient who 10 years ago developed the clinical symptoms of HAE which occurred at the same time as subacute cutaneous lupus erythematosus. The results of both immunological investigations and histocompatibility antigen genotyping gave no clear insight into the causal interrelationship of both diseases.

The increased occurrence of various

    autoimmune diseases
    DIAGNOSIS

 has recently been reported in patients with

    hereditary angioedema (HAE)
    DIAGNOSIS

. This is especially the case in different forms of

    lupus erythematosus
    DIAGNOSIS

, but also other

    autoimmune diseases
    DIAGNOSIS

. We report a

    24-year-old
    AGE

    female
    GENDER

 patient who 10 years ago developed the

    clinical symptoms
    SYMPTOMS

 of

    HAE
    DIAGNOSIS

 which occurred at the same time as

    subacute cutaneous lupus erythematosus
    DIAGNOSIS

. The results of both

    immunological investigations
    PARACLINICAL

 and

    histocompatibility antigen genotyping
    PARACLINICAL

 gave

    no clear insight into
    NEG_FINDINGS

 the causal interrelationship of both diseases.

autoimmune diseases
hereditary angioedema (HAE)
lupus erythematosus
autoimmune diseases
HAE
subacute cutaneous lupus erythematosus


Hereditary angioedema: report of case.

Hereditary angioedema (HAE) is a life-threatening disorder triggered by trauma or stress, which causes various organ systems to become edematous. Most mortality is observed secondary to laryngeal edema, caused by dental manipulation. This disorder requires special medical management before dental treatment. Some drugs also exacerbate the disorder. Current methods of treating patients with HAE are presented.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    life-threatening disorder
    DIAGNOSIS

 triggered by

    trauma
    SYMPTOMS

 or

    stress
    SYMPTOMS

, which causes

    various organ systems to become edematous
    SYMPTOMS

. Most mortality is observed secondary to

    laryngeal edema
    SYMPTOMS

, caused by

    dental manipulation
    MEDICATION

. This disorder requires

    special medical management
    MEDICATION

 before

    dental treatment
    MEDICATION

. Some drugs also exacerbate the disorder. Current methods of treating patients with

    HAE
    DIAGNOSIS

 are presented.

Hereditary angioedema (HAE)
life-threatening disorder
HAE

dental manipulation
special medical management
dental treatment


Acquired angioedema.

An unusual case of angioedema is presented. The initial presentation occurred at 84 years-of-age without a family history of this condition. Further investigation revealed an underlying lymphoproliferative disorder which was associated with an acquired deficiency of the complement component C1 esterase inhibitor. It is important to distinguish this condition from the hereditary form.

An unusual case of

    angioedema
    DIAGNOSIS

 is presented. The initial presentation occurred at

    84 years-of-age
    AGE

    without a family history of this condition
    NEG_FINDINGS

. Further investigation revealed an underlying

    lymphoproliferative disorder
    DIAGNOSIS

 which was associated with an

    acquired deficiency of the complement component C1 esterase inhibitor
    BIOCHEMICAL

. It is important to distinguish this condition from the hereditary form.


Hereditary angioedema.

Although the condition is rare, patients with hereditary angioedema often present because of abdominal pain or airway compromise. A 27-year-old woman presented to the emergency department in acute abdominal distress. Identification of the disease in this patient allowed for proper management and avoidance of invasive procedures. Pathophysiology, clinical manifestations, diagnosis, and therapy of hereditary angioedema are discussed.

Although the condition is rare, patients with

    hereditary angioedema
    DIAGNOSIS

 often present because of

    abdominal pain
    SYMPTOMS

 or

    airway compromise
    SYMPTOMS

. A

    27-year-old
    AGE

    woman
    GENDER

 presented to the emergency department in

    acute abdominal distress
    SYMPTOMS

. Identification of the disease in this patient allowed for proper management and

    avoidance of invasive procedures
    MEDICATION

. Pathophysiology, clinical manifestations, diagnosis, and therapy of

    hereditary angioedema
    DIAGNOSIS

 are discussed.

hereditary angioedema
hereditary angioedema

abdominal pain
airway compromise
acute abdominal distress


Hereditary angioedema and immunoglobulin A deficiency in pregnancy.

Hereditary angioedema is a rare immunologic disorder, and immunoglobulin A deficiency is the most common isolated immunodeficiency. These rarely coexisting conditions may affect pregnancy. We report a gravida with the combination who developed severe acute laryngeal edema.

    Hereditary angioedema
    DIAGNOSIS

 is a

    rare immunologic disorder
    DIAGNOSIS

, and

    immunoglobulin A deficiency
    BIOCHEMICAL

 is the most common

    isolated immunodeficiency
    DIAGNOSIS

. These rarely coexisting conditions may affect

    pregnancy
    DIAGNOSIS

. We report a

    gravida
    GENDER

 with the combination who developed

    severe acute laryngeal edema
    SYMPTOMS

.

Hereditary angioedema
rare immunologic disorder
isolated immunodeficiency
pregnancy


Hereditary angioedema. Undersuspected, underdiagnosed.

Although hereditary angioedema accounts for only a small fraction of all angioedema, it is relatively common among inherited deficiencies of plasma proteins. The occurrences of upper respiratory obstruction, of attacks following trauma, and of episodes of abdominal pain are clues to the diagnosis, and the absence of a family history is no reassurance against it. Measurement of C4 concentration is a useful screening test: Normal values exclude the diagnosis, while subnormal values mandate measurement of C1 INH by immunoassay or functional assay. The functional assay is required to detect the genetic variant form. The importance of making the diagnosis is threefold. It facilitates prevention of life-threatening complications, such as upper airway obstruction and needless abdominal surgery. It leads to use of short-term prophylactic measures to prevent complications associated with trauma. In patients with disability due to frequent attacks, suppression or elimination of all symptoms can be achieved by chronic treatment with impeded androgens.

Although

    hereditary angioedema
    DIAGNOSIS

 accounts for only a small fraction of all

    angioedema
    DIAGNOSIS

, it is relatively common among

    inherited deficiencies of plasma proteins
    GENETICS

. The occurrences of

    upper respiratory obstruction
    SYMPTOMS

,

    of attacks following trauma
    SYMPTOMS

, and of

    episodes of abdominal pain
    SYMPTOMS

 are clues to the diagnosis, and the

    absence of a family history is no reassurance against
    NEG_FINDINGS

 it.

    Measurement of C4 concentration
    BIOCHEMICAL

 is a useful screening test:

    Normal values
    BIOCHEMICAL

 exclude the diagnosis, while

    subnormal values
    BIOCHEMICAL

 mandate

    measurement of C1 INH
    BIOCHEMICAL

 by

    immunoassay or functional assay
    PARACLINICAL

. The

    functional assay
    PARACLINICAL

 is required to detect the

    genetic variant form
    GENETICS

. The importance of making the diagnosis is threefold. It facilitates prevention of

    life-threatening complications
    SYMPTOMS

, such as

    upper airway obstruction
    SYMPTOMS

 and

    needless abdominal surgery
    MEDICATION

. It leads to use of

    short-term prophylactic measures
    MEDICATION

 to

    prevent complications associated with trauma
    SYMPTOMS

. In patients with

    disability
    SYMPTOMS

 due to

    frequent attacks
    SYMPTOMS

,

    suppression or elimination of all symptoms
    SYMPTOMS

 can be achieved by

    chronic treatment with impeded androgens
    MEDICATION

.

Measurement of C4 concentration
Normal values
subnormal values
measurement of C1 INH


Hereditary angioedema: clinical and biochemical heterogeneity.

Hereditary angioedema is a well defined entity for which we now have effective therapy. It is a condition however that can have different clinical presentations which require individualized therapeutic approaches. The recent advances into the molecular biology of this condition should provide further insights for its effective management.

    Hereditary angioedema
    DIAGNOSIS

 is a well defined entity for which we now have effective therapy. It is a condition however that can have different clinical presentations which require individualized therapeutic approaches. The recent advances into the molecular biology of this condition should provide further insights for its effective management.


Rheumatoid arthritis and hereditary angioedema.

We describe a case in which rheumatoid arthritis (RA) developed in a patient with hereditary angioedema. Hereditary angioedema, one of the inherited complement deficiencies, has been reported in association with a number of autoimmune disorders, but there has been only 1 report of an association between RA and hereditary angioedema.

We describe a case in which

    rheumatoid arthritis (RA)
    DIAGNOSIS

 developed in a patient with

    hereditary angioedema
    DIAGNOSIS

.

    Hereditary angioedema
    DIAGNOSIS

, one of the

    inherited complement deficiencies
    GENETICS

, has been reported in association with a number of

    autoimmune disorders
    DIAGNOSIS

, but there has been only 1 report of an association between

    RA
    DIAGNOSIS

 and

    hereditary angioedema
    DIAGNOSIS

.

rheumatoid arthritis (RA)
hereditary angioedema
Hereditary angioedema
autoimmune disorders
RA
hereditary angioedema


Anti-Ro-positive lupus and hereditary angioneurotic edema. A 7-year follow-up with worsening of lupus under danazol treatment.

A 24-year-old woman, having familial hereditary angioneurotic edema (HAE) treated with danazol, developed an anti-Ro-positive lupus featured by a mild erythematous eruption that seemed initially to decrease and then worsened under danazol, and dramatically improved after danazol was withdrawn. The relationship between lupus and HAE is discussed with special reference to the hormonal sensitivity of autoimmune diseases. It is possible that the responsibility of danazol as well as the immunogenetic background can explain the clinical course of this association.

A

    24-year-old
    AGE

    woman
    GENDER

, having

    familial hereditary angioneurotic edema (HAE)
    FAMILY

 treated with

    danazol
    MEDICATION

, developed an

    anti-Ro-positive lupus
    BIOCHEMICAL

 featured by a

    mild erythematous eruption that seemed initially to decrease and then worsened
    SYMPTOMS

 under

    danazol
    MEDICATION

, and

    dramatically improved
    SYMPTOMS

 after

    danazol was withdrawn
    MEDICATION

. The relationship between

    lupus
    DIAGNOSIS

 and

    HAE
    DIAGNOSIS

 is discussed with special reference to the

    hormonal sensitivity
    SYMPTOMS

 of

    autoimmune diseases
    DIAGNOSIS

. It is possible that the responsibility of

    danazol
    MEDICATION

 as well as the

    immunogenetic background
    GENETICS

 can explain the clinical course of this association.

danazol
danazol
danazol was withdrawn
danazol


Intravenous tranexamic acid in the management of hereditary angio-oedema.

The pathogenesis and management of hereditary angio-oedema is discussed. The use of intravenous tranexamic acid to provide short term prophylactic cover for patients with hereditary angio-oedema undergoing oral surgery is presented.

The pathogenesis and management of

    hereditary angio-oedema
    DIAGNOSIS

 is discussed. The use of

    intravenous tranexamic acid to provide short term prophylactic cover
    MEDICATION

 for patients with

    hereditary angio-oedema
    DIAGNOSIS

 undergoing

    oral surgery
    MEDICATION

 is presented.

hereditary angio-oedema
hereditary angio-oedema


[Abdominal sonography in hereditary angioneurotic edema. A contribution to the early diagnosis of a disease of interdisciplinary significance].

Hereditary angioneurotic oedema is a rare complement-related disorder (C1-esterase-inhibitor deficiency) characterised by recurrent episodic swelling of the limbs, face, gastrointestinal tract, or airways. The mortality rate of the unrecognised disorder is 30 per cent, mainly due to airway obstruction. Two female patients (aged 29 and 61 years) with proven disease were studied by ultrasonography while they suffered from acute abdominal pain: Ultrasound imaging showed a diffuse oedematous but compressible gut wall with reduced bowel motility, distended bowel loops with intraluminal fluid accumulation and free fluid in the peritoneal cavity. The ultrasonographic feature was different from that of other gastrointestinal diseases. In combination with the patient's history, the clinical pattern and the normal routine laboratory findings, abdominal ultrasonography is a suitable tool for early diagnosis of a potentially life-threatening disorder.

    Hereditary angioneurotic oedema
    DIAGNOSIS

 is a

    rare complement-related disorder
    DIAGNOSIS

 (

    C1-esterase-inhibitor deficiency
    BIOCHEMICAL

) characterised by

    recurrent episodic swelling of the limbs, face, gastrointestinal tract, or airways
    SYMPTOMS

. The mortality rate of the unrecognised disorder is 30 per cent, mainly due to

    airway obstruction
    SYMPTOMS

. Two

    female
    GENDER

 patients (

    aged 29 and 61 years
    AGE

) with proven disease were studied by

    ultrasonography
    PARACLINICAL

 while they suffered from

    acute abdominal pain
    SYMPTOMS

:

    Ultrasound imaging
    PARACLINICAL

 showed a

    diffuse oedematous but compressible gut wall with reduced bowel motility
    SYMPTOMS

,

    distended bowel loops with intraluminal fluid accumulation
    SYMPTOMS

 and

    free fluid in the peritoneal cavity
    SYMPTOMS

. The ultrasonographic feature was different from that of other

    gastrointestinal diseases
    SYMPTOMS

. In combination with the patient's history, the clinical pattern and the

    normal routine laboratory findings
    NEG_FINDINGS

,

    abdominal ultrasonography
    PARACLINICAL

 is a suitable tool for early diagnosis of a potentially life-threatening disorder.

Hereditary angioneurotic oedema
rare complement-related disorder


Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members.

This paper describes a previously unreported finding of abdominal pain as the only lifelong manifestation of hereditary angioedema in multiple family members. This diagnosis was obscured by the absence of cutaneous, oropharyngeal, and respiratory involvement. Barium studies performed during painful attacks showed transient intestinal wall edema which, along with abnormalities in the C4 level and C1 esterase inhibitor activity, confirmed the diagnosis. It is important that hereditary angioedema be recognized in its various forms so that invasive procedures can be avoided and prophylactic therapy can be administered.

This paper describes a previously unreported finding of

    abdominal pain
    SYMPTOMS

 as the only lifelong manifestation of

    hereditary angioedema
    DIAGNOSIS

    in multiple family members
    FAMILY

. This diagnosis was obscured by the

    absence of cutaneous, oropharyngeal, and respiratory involvement
    NEG_FINDINGS

.

    Barium studies
    PARACLINICAL

 performed during

    painful attacks
    SYMPTOMS

 showed

    transient intestinal wall edema
    SYMPTOMS

 which, along with

    abnormalities in the C4 level and C1 esterase inhibitor activity
    BIOCHEMICAL

, confirmed the diagnosis. It is important that

    hereditary angioedema
    DIAGNOSIS

 be recognized in its various forms so that

    invasive procedures
    MEDICATION

 can be avoided and

    prophylactic therapy
    MEDICATION

 can be administered.

abdominal pain
painful attacks
transient intestinal wall edema

invasive procedures
prophylactic therapy


Hereditary angioedema: a study of three families.

Familial angioedema is an autosomal dominant hereditary disease whose pathogenesis is attributed to a C1 inhibitor (C1 INH) deficit. Two genetic forms have been recognized related to the C1 inhibitor deficiency or its dysfunction. Antifibrinolytics as well as androgenic derivatives have proved to be effective in the prevention and treatment of this pathology. In this paper we present the studies carried out in three families affected by C1 inh. deficit and the treatment employed. Some of the members of these families showed symptoms related with this deficit. A satisfactory explanation has not been formulated to justify the reason why only some of the members in our study showed symptomatology, given that there were no differences between the C1 inh. levels in these patients and those who were not affected. The absence of family history connected with this disease does not necessarily suggest that a genetic mutation has been produced. This deficit could have been present in earlier generations but without clinical manifestations. Stanozolol proved effective in the control of symptoms in the two patients to whom this treatment was applied. However, the rise of C1 inh. levels was significative only in one of them. The lack of connection between the clinical improvement and the normalization of the C1 inh. levels led us to think that the main goal of the therapy should not be directed to the normalization of these levels but to keep the patient asymptomatic with the lowest possible doses of the selected medication.

    Familial angioedema
    DIAGNOSIS

 is an

    autosomal dominant hereditary disease
    GENETICS

 whose pathogenesis is attributed to a

    C1 inhibitor (C1 INH) deficit
    BIOCHEMICAL

. Two genetic forms have been recognized related to the

    C1 inhibitor deficiency
    BIOCHEMICAL

 or

    its dysfunction
    BIOCHEMICAL

.

    Antifibrinolytics
    MEDICATION

 as well as

    androgenic derivatives
    MEDICATION

 have proved to be effective in the prevention and treatment of this pathology. In this paper we present the studies carried out in three families affected by

    C1 inh. deficit
    BIOCHEMICAL

 and the treatment employed. Some of the members of these families showed

    symptoms related with this deficit
    SYMPTOMS

. A satisfactory explanation has not been formulated to justify the reason why only some of the members in our study showed symptomatology, given that there were

    no differences between the C1 inh. levels
    NEG_FINDINGS

 in these patients and those who were not affected. The

    absence of family history connected with this disease
    FAMILY

 does not necessarily suggest that a

    genetic mutation
    GENETICS

 has been produced. This deficit could have been present in earlier generations but

    without clinical manifestations
    NEG_FINDINGS

.

    Stanozolol
    MEDICATION

 proved effective in the

    control of symptoms
    SYMPTOMS

 in the two patients to whom this treatment was applied. However, the

    rise of C1 inh. levels was significative
    BIOCHEMICAL

 only in one of them. The

    lack of connection between the clinical improvement
    NEG_FINDINGS

 and the

    normalization of the C1 inh. levels
    BIOCHEMICAL

 led us to think that the main goal of the therapy should not be directed to the

    normalization of these levels
    BIOCHEMICAL

 but to keep the patient asymptomatic with the lowest possible doses of the selected medication.

autosomal dominant hereditary disease
genetic mutation

Antifibrinolytics
androgenic derivatives
Stanozolol

symptoms related with this deficit
control of symptoms


Hereditary angioedema and aortitis.

A 28-year-old male with hereditary angioedema died of an extensive stroke. Autopsy revealed cicatricial aortitis with narrowing of the coronary ostia, myocardial infarctions, and a left ventricular mural thrombus. There was neither acute inflammation of the aorta nor systemic vasculitis. A possible association of the aortitis with the hereditary angioedema is discussed.

A

    28-year-old
    AGE

    male
    GENDER

 with

    hereditary angioedema
    DIAGNOSIS

    died
    SYMPTOMS

 of an

    extensive stroke
    SYMPTOMS

.

    Autopsy
    PARACLINICAL

 revealed

    cicatricial aortitis with narrowing of the coronary ostia
    SYMPTOMS

,

    myocardial infarctions
    SYMPTOMS

, and a

    left ventricular mural thrombus
    SYMPTOMS

. There was

    neither acute inflammation of the aorta nor systemic vasculitis
    NEG_FINDINGS

. A possible

    association of the aortitis
    DIAGNOSIS

 with the

    hereditary angioedema
    DIAGNOSIS

 is discussed.

hereditary angioedema
association of the aortitis
hereditary angioedema