[Hereditary C1 esterase inhibitor deficiency type I. Divergence of clinical symptoms and laboratory chemical findings].

A 35- and a 29-year-old woman presented with longstanding recurrent angioedema refractory to therapy with steroids and antihistaminic drugs. Laboratory data revealed in both cases a functional and immunohistochemical deficiency of C1-esterase-inhibitor protein (C1-INH). Further investigations of their families showed some individuals with the same pathological findings without any clinical symptoms. Thus we identified striking differences in degree of severity of clinical features in hereditary C1-INH-deficiency type I. These case-reports emphasize the importance of knowing further diagnostic steps in angioedema refractory to therapy with steroids and antihistamines drugs. Furthermore we give a picture of the different clinical courses of C1-INH-deficiency type I and underline that there is no correlation between clinical symptoms and laboratory findings.

A

    35- and a 29-year-old
    AGE

    woman
    GENDER

 presented with

    longstanding recurrent angioedema
    SYMPTOMS

    refractory to therapy with steroids and antihistaminic drugs
    NEG_FINDINGS

.

    Laboratory data
    PARACLINICAL

 revealed in both cases a

    functional and immunohistochemical deficiency of C1-esterase-inhibitor protein (C1-INH)
    BIOCHEMICAL

. Further investigations of their families showed

    some individuals with the same pathological findings
    FAMILY

    without any clinical symptoms
    NEG_FINDINGS

. Thus we identified striking differences in degree of severity of clinical features in hereditary C1-INH-deficiency type I. These case-reports emphasize the importance of knowing further diagnostic steps in

    angioedema
    DIAGNOSIS

    refractory to therapy with steroids and antihistamines drugs
    NEG_FINDINGS

. Furthermore we give a picture of the different clinical courses of

    C1-INH-deficiency type I
    DIAGNOSIS

 and underline that there is

    no correlation between clinical symptoms and laboratory findings
    NEG_FINDINGS

.


Life-threatening angioedema in systemic lupus erythematosus.

Life-threatening angioedema involving the upper respiratory tract is an uncommon manifestation in systemic lupus erythematosus (SLE). We report three patients in their late adolescence who had laryngeal oedema causing airway obstruction and requiring mechanical ventilation during active disease following symptoms of a respiratory tract infection. All of them had major organ involvement from lupus and none had a family history of hereditary angioedema (HAE). The mechanisms of angioedema in SLE are heterogeneous. There has been little evidence so far of anti-Cl inhibitor (Cl INH) autoantibody in SLE patients with angioedema. These are the first three cases reported in the literature of life-threatening angioedema following respiratory tract infection in SLE.

    Life-threatening angioedema involving the upper respiratory tract
    SYMPTOMS

 is an uncommon manifestation in

    systemic lupus erythematosus (SLE)
    DIAGNOSIS

. We report three patients in

    their late adolescence
    AGE

 who had

    laryngeal oedema
    SYMPTOMS

 causing

    airway obstruction
    SYMPTOMS

 and

    requiring mechanical ventilation
    MEDICATION

 during

    active disease
    SYMPTOMS

 following

    symptoms of a respiratory tract infection
    SYMPTOMS

. All of them had

    major organ involvement
    SYMPTOMS

 from

    lupus
    DIAGNOSIS

 and

    none had a family history of hereditary angioedema (HAE)
    NEG_FINDINGS

. The mechanisms of

    angioedema
    DIAGNOSIS

 in

    SLE
    DIAGNOSIS

 are heterogeneous. There has been little evidence so far of

    anti-Cl inhibitor (Cl INH) autoantibody
    BIOCHEMICAL

 in

    SLE
    DIAGNOSIS

 patients with

    angioedema
    DIAGNOSIS

. These are the first three cases reported in the literature of

    life-threatening angioedema following respiratory tract infection
    SYMPTOMS

 in

    SLE
    DIAGNOSIS

.

systemic lupus erythematosus (SLE)
lupus
angioedema
SLE
SLE
angioedema
SLE


Sonographic appearances of the abdominal manifestations of hereditary angioedema.

Hereditary angioedema (HAE) is the autosomal dominant deficiency of C1-esterase inhibitor. There have hitherto been no reports on the US appearances of HAE. The unique case of a 12-year-old girl with recurrent abdominal pain is reported, in whom HAE was diagnosed by US and family history of paroxysmal dyspnoea, cutaneous swelling and attacks of abdominal pain. Pertinent US features were intestinal oedema and ascites. Sonographic evidence of intestinal swelling was only seen on the initial day of an episode of abdominal pain. Oedema, as demonstrated by MRI the following day, regressed rapidly, whereas ascites persisted for at least 3 days. It is therefore important to perform imaging in the acute phase to demonstrate the massive intestinal oedema, which is characteristic for the disease.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is the

    autosomal dominant deficiency of C1-esterase inhibitor
    GENETICS

. There have hitherto been no reports on the US appearances of

    HAE
    DIAGNOSIS

. The unique case of a

    12-year-old
    AGE

    girl
    GENDER

 with

    recurrent abdominal pain
    SYMPTOMS

 is reported, in whom

    HAE
    DIAGNOSIS

 was diagnosed by

    US
    PARACLINICAL

 and

    family history of paroxysmal dyspnoea
    FAMILY

,

    cutaneous swelling
    SYMPTOMS

 and

    attacks of abdominal pain
    SYMPTOMS

. Pertinent US features were

    intestinal oedema
    SYMPTOMS

 and

    ascites
    SYMPTOMS

.

    Sonographic evidence of intestinal swelling
    PARACLINICAL

 was only seen on the initial day of an

    episode of abdominal pain
    SYMPTOMS

.

    Oedema
    SYMPTOMS

, as demonstrated by

    MRI
    PARACLINICAL

 the following day, regressed rapidly, whereas

    ascites persisted for at least 3 days
    SYMPTOMS

. It is therefore important to perform

    imaging
    PARACLINICAL

 in the acute phase to demonstrate the

    massive intestinal oedema
    SYMPTOMS

, which is characteristic for the disease.

recurrent abdominal pain
cutaneous swelling
attacks of abdominal pain
intestinal oedema
ascites
episode of abdominal pain
Oedema
ascites persisted for at least 3 days
massive intestinal oedema


Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling.

We describe a patient with hereditary angioedema (HAE), showing recurrent edema around the peripheral joints. Her symptoms began at the age of 18 with hand swelling distal to the wrist joints. Until she was referred to our hospital 3 years after her initial symptoms, she was still undiagnosed, although she was suspected of having rheumatoid arthritis. Laboratory examination showed reduced levels of CH50 and C4 with normal C3 levels. The C1 inhibitor (C1-INH) was decreased to 5 mg/ml, with remarkably reduced activity. Although these findings were compatible with a diagnosis of HAE, there were no episodes of skin edema in her family. To establish the diagnosis, we carried out DNA analysis of the C1-INH gene, which revealed a newly identified de novo mutation of G to A at nucleotide 16869 in exon 8. As described in this patient, localized edema around the peripheral joints may be the only manifestation of HAE. HAE should therefore be taken into consideration for the differential diagnosis of joint swelling.

We describe a patient with

    hereditary angioedema (HAE)
    DIAGNOSIS

, showing

    recurrent edema around the peripheral joints
    SYMPTOMS

.

    Her
    GENDER

 symptoms began at the

    age of 18
    AGE

 with

    hand swelling distal to the wrist joints
    SYMPTOMS

. Until

    she
    GENDER

 was referred to our hospital 3 years after her initial symptoms,

    she
    GENDER

    was still undiagnosed
    NEG_FINDINGS

, although

    she
    GENDER

 was

    suspected of having rheumatoid arthritis
    NEG_FINDINGS

.

    Laboratory examination
    PARACLINICAL

 showed

    reduced levels of CH50 and C4
    BIOCHEMICAL

 with

    normal C3 levels
    BIOCHEMICAL

.

    The C1 inhibitor (C1-INH) was decreased to 5 mg/ml, with remarkably reduced activity
    BIOCHEMICAL

. Although these findings were compatible with a diagnosis of

    HAE
    DIAGNOSIS

, there were

    no episodes of skin edema in her family
    NEG_FINDINGS

. To establish the diagnosis, we carried out

    DNA analysis of the C1-INH gene
    PARACLINICAL

, which revealed a

    newly identified de novo mutation of G to A at nucleotide 16869 in exon 8
    GENETICS

. As described in this patient,

    localized edema around the peripheral joints
    SYMPTOMS

 may be the only manifestation of

    HAE
    DIAGNOSIS

.

    HAE
    DIAGNOSIS

 should therefore be taken into consideration for the

    differential diagnosis
    PARACLINICAL

 of

    joint swelling
    SYMPTOMS

.


Hereditary angio-edema involving the gastrointestinal tract: CT findings.

We report a case of hereditary angio-edema in a young man presenting with recurrent abdominal pain for many years. The diagnosis was suspected on the basis of abdominal CT performed during an abdominal attack and was then confirmed by the measurement of serum concentration of C1 esterase inhibitor (C1-INH). To our knowledge, this is the first case reported of the hereditary form of angio-edema with isolated abdominal pain and in which the diagnosis was suggested by abdominal CT findings.

We report a case of

    hereditary angio-edema
    DIAGNOSIS

 in a

    young
    AGE

    man
    GENDER

 presenting with

    recurrent abdominal pain for many years
    SYMPTOMS

. The diagnosis was suspected on the basis of

    abdominal CT
    PARACLINICAL

 performed during an

    abdominal attack
    SYMPTOMS

 and was then confirmed by the

    measurement of serum concentration of C1 esterase inhibitor (C1-INH)
    BIOCHEMICAL

. To our knowledge, this is the first case reported of the

    hereditary form of angio-edema
    DIAGNOSIS

 with

    isolated abdominal pain
    SYMPTOMS

 and in which the diagnosis was suggested by

    abdominal CT findings
    PARACLINICAL

.

hereditary angio-edema
hereditary form of angio-edema

recurrent abdominal pain for many years
abdominal attack
isolated abdominal pain


[Perioperative treatment of a patient with hereditary angioedema (HAE) in a case of a young patient with osteosynthesis from a femoral fracture].

The following case report describes hereditary angioedema (HAE) in a juvenile male patient presenting with femoral fracture. The clinical characteristics, pathophysiological changes, diagnostics and management of anaesthesia for patients with hereditary angioedema will be discussed. Hereditary angioedema (HAE) is a rare autosomal dominant disorder, which is caused by congenital deficiency of functional C1-inhibitor (C1-INH). Patients are suffering from episodic and painless edema of the skin (face and limbs) and mucous membranes of the respiratory and gastrointestinal tracts (the latter causing abdominal cramps due to edema of the intestine). Life-threatening airway obstruction may occur when patients develop laryngeal edema. It is important to differentiate HAE from the more frequent allergic angioedema because of differences in the pharmacological treatment of acute attacks of HAE. C1-INH-concentrate is effective in both treatment of acute attacks and prevention of edema, especially in children, juveniles and young women.

The following case report describes

    hereditary angioedema (HAE)
    DIAGNOSIS

 in a

    juvenile
    AGE

    male
    GENDER

 patient presenting with

    femoral fracture
    MEDICATION

. The clinical characteristics, pathophysiological changes, diagnostics and management of

    anaesthesia
    MEDICATION

 for patients with

    hereditary angioedema
    DIAGNOSIS

 will be discussed.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    rare autosomal dominant disorder
    GENETICS

, which is caused by

    congenital
    GENETICS

    deficiency of functional C1-inhibitor (C1-INH)
    BIOCHEMICAL

. Patients are suffering from

    episodic and painless edema of the skin (face and limbs) and mucous membranes of the respiratory and gastrointestinal tracts
    SYMPTOMS

 (the latter causing

    abdominal cramps due to edema of the intestine)
    SYMPTOMS

.

    Life-threatening airway obstruction
    SYMPTOMS

 may occur when patients develop

    laryngeal edema
    SYMPTOMS

. It is important to differentiate

    HAE
    DIAGNOSIS

 from the more frequent

    allergic angioedema
    DIAGNOSIS

 because of differences in the pharmacological treatment of

    acute attacks of HAE
    DIAGNOSIS

.

    C1-INH-concentrate
    MEDICATION

 is effective in both treatment of

    acute attacks
    SYMPTOMS

 and

    prevention of edema
    SYMPTOMS

, especially in

    children
    AGE

,

    juveniles
    AGE

 and

    young
    AGE

    women
    GENDER

.

hereditary angioedema (HAE)
hereditary angioedema
Hereditary angioedema (HAE)
HAE
allergic angioedema
acute attacks of HAE

femoral fracture
anaesthesia
C1-INH-concentrate

rare autosomal dominant disorder
congenital


Unusual manifestations of hereditary angioedema.

Hereditary angioedema is a hereditary disorder transmitted as an autosomal dominant trait, characterized by reduced plasma concentration of C1 esterase inhibitor (type 1) or the presence of non functional C1 esterase inhibitor (type 2). We describe and discuss the case of a 35-year-old man who presented two unusual clinical manifestations of type 2 hereditary angioedema causing diverse emergency situations: acute abdomen and parasellar oedema.

    Hereditary angioedema
    DIAGNOSIS

 is a

    hereditary disorder transmitted as an autosomal dominant trait
    GENETICS

, characterized by

    reduced plasma concentration of C1 esterase inhibitor (type 1)
    BIOCHEMICAL

 or the

    presence of non functional C1 esterase inhibitor (type 2)
    BIOCHEMICAL

. We describe and discuss the case of a

    35-year-old
    AGE

    man
    GENDER

 who presented

    two unusual clinical manifestations
    SYMPTOMS

 of

    type 2 hereditary angioedema
    DIAGNOSIS

 causing diverse emergency situations:

    acute abdomen
    SYMPTOMS

 and

    parasellar oedema
    SYMPTOMS

.

Hereditary angioedema
type 2 hereditary angioedema

two unusual clinical manifestations
acute abdomen
parasellar oedema


Hereditary angioedema: case report of a family.

Hereditary angioedema (HAE) is a rare disease resulting from deficiency of complement 1 esterase inhibitor (C1-INH). The clinical manifestations of this disease include recurrent attacks of self-limiting edema affecting face, extremities, gastrointestinal system and upper airways. In this report, we present eleven members of a family with HAE. Edema of the extremities was the most common symptom, occurring in ten patients. Three patients experienced severe laryngeal edema that required tracheotomy. Three patients developed facial and scrotal edema. Three patients experienced severe abdominal pain. The mean age at onset of symptoms was 11 years. C1-INH levels were undetectable in two patients and low in nine patients. CH50 was undetectable in all of the patients. C4 level for all patients was low. HAE in our first case, a 10-year-old boy, was diagnosed on the basis of low C1-INH, CH50 and C4, in addition to his familial history. Eleven members of this family, for whom laboratory studies could not be done, had similar symptoms and course. Two patients died as a result of laryngeal edema before establishment of diagnosis. This case report indicates the importance of recognition and early treatment of HAE to prevent a potentially fatal outcome.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a rare disease resulting from

    deficiency of complement 1 esterase inhibitor (C1-INH)
    BIOCHEMICAL

. The clinical manifestations of this disease include

    recurrent attacks of self-limiting edema affecting face, extremities, gastrointestinal system and upper airways
    SYMPTOMS

. In this report, we present eleven members of a

    family with HAE
    FAMILY

.

    Edema of the extremities
    SYMPTOMS

 was the most common symptom, occurring in ten patients. Three patients experienced

    severe laryngeal edema
    SYMPTOMS

 that required

    tracheotomy
    MEDICATION

. Three patients developed

    facial and scrotal edema
    SYMPTOMS

. Three patients experienced

    severe abdominal pain
    SYMPTOMS

. The

    mean age at onset of symptoms was 11 years
    AGE

.

    C1-INH levels were undetectable
    BIOCHEMICAL

 in two patients and

    low
    BIOCHEMICAL

 in nine patients.

    CH50 was undetectable
    BIOCHEMICAL

 in all of the patients.

    C4 level for
    BIOCHEMICAL

 all patients

    was low
    BIOCHEMICAL

.

    HAE
    DIAGNOSIS

 in our first case, a

    10-year-old
    AGE

    boy
    GENDER

, was diagnosed on the basis of

    low C1-INH, CH50 and C4
    BIOCHEMICAL

, in addition to his

    familial history
    FAMILY

.

    Eleven members of this family
    FAMILY

, for whom

    laboratory studies could not be done
    NEG_FINDINGS

, had similar symptoms and course. Two patients

    died
    SYMPTOMS

 as a result of

    laryngeal edema
    SYMPTOMS

 before establishment of diagnosis. This case report indicates the importance of recognition and early treatment of

    HAE
    DIAGNOSIS

 to prevent a potentially fatal outcome.


Hereditary angioedema precipitated by estrogen replacement therapy in a menopausal woman.

We report the first documented case in the literature of hereditary angioedema presenting after commencement of estrogen replacement therapy for menopausal symptoms. The late presentation of the disease and the precipitation of attacks by physiological doses of estrogen replacement therapy make this a highly unusual case. The pathophysiology of hereditary angioedema and its hormonal links are discussed.

We report the first documented case in the literature of

    hereditary angioedema
    DIAGNOSIS

 presenting after

    commencement of estrogen replacement therapy
    MEDICATION

 for

    menopausal symptoms
    SYMPTOMS

. The late presentation of the disease and the

    precipitation of attacks
    SYMPTOMS

 by

    physiological doses of estrogen replacement therapy
    MEDICATION

 make this a highly unusual case. The pathophysiology of

    hereditary angioedema
    DIAGNOSIS

 and its hormonal links are discussed.

hereditary angioedema
hereditary angioedema

menopausal symptoms
precipitation of attacks


Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema.

Two genetic forms of hereditary angioedema (HAE) are currently recognized. Both are transmitted in an autosomal dominant manner and are characterized by recurrent episodes of localized angioedema. Involvement of the gut leads to episodes of severe abdominal pain, and laryngeal involvement can lead to airway obstruction and even death. One type results from heterozygosity for a nonexpressed C1 inhibitor allele, and the other results from heterozygosity for a nonfunctional C1 inhibitor allele.

This report identifies a third type of HAE, with a unique estrogen-dependent phenotype.

Detailed medical histories were obtained from family members, and a pedigree was constructed to ascertain the mode of inheritance. Determination of serum complement factors, C1 inhibitor protein, C1 inhibitor function, coagulation factor XII, plasma prekallikrein, high molecular weight kininogen, and selected DNA sequences were performed in affected members by using standard assays.

Episodes of angioedema were clinically indistinguishable from those associated with previously described forms of HAE; however, these occurred only during pregnancy or the use of exogenous estrogens. Patients were otherwise asymptomatic, except for one patient who had acetyl salicylic acid/nonsteroidal anti-inflammatory drug-related angioedema later in life. History was available for members spanning 4 generations, and affected individuals were identified in 3 generations. Of 46 family members, phenotype could be determined in 13 members. Seven were affected, and 6 were not. One male of undetermined phenotype was an obligate carrier. The unique estrogen-dependent nature of the phenotype means that the status of several members in the third and fourth generation remains unknown. The disorder appears to be transmitted in an autosomal dominant fashion, although other modes of inheritance cannot be excluded entirely. C1 inhibitor protein, C1 inhibitor function, C2, C4, C1q, coagulation factor XII, prekallikrein, and high molecular kininogen were normal in 3 affected family members during asymptomatic periods. DNA sequencing revealed no abnormality in 3 patients in the coding region of the gene encoding C1 inhibitor or in the 5' flanking regions of the genes encoding C1 inhibitor and factor XII.

This family appears to have a novel form of inherited angioedema that does not result from C1 inhibitor deficiency or dysfunction. The phenotype is uniquely estrogen dependent. Implications for diagnosis and treatment are discussed. Further studies are required to define the exact nature of the genetic abnormality involved.

Two genetic forms of

    hereditary angioedema (HAE)
    DIAGNOSIS

 are currently recognized. Both are

    transmitted in an autosomal dominant manner
    GENETICS

 and are characterized by

    recurrent episodes of localized angioedema
    SYMPTOMS

.

    Involvement of the gut
    SYMPTOMS

 leads to

    episodes of severe abdominal pain
    SYMPTOMS

, and

    laryngeal involvement
    SYMPTOMS

 can lead to

    airway obstruction
    SYMPTOMS

 and even

    death
    SYMPTOMS

. One type results from

    heterozygosity for a nonexpressed C1 inhibitor allele
    GENETICS

, and the other results from

    heterozygosity for a nonfunctional C1 inhibitor allele
    GENETICS

.

This report identifies a third type of

    HAE
    DIAGNOSIS

, with a

    unique estrogen-dependent phenotype
    SYMPTOMS

.

Detailed medical histories were obtained from

    family members
    PARACLINICAL

, and a pedigree was constructed to ascertain the mode of inheritance.

    Determination of serum complement factors, C1 inhibitor protein, C1 inhibitor function, coagulation factor XII, plasma prekallikrein, high molecular weight kininogen
    BIOCHEMICAL

, and

    selected DNA sequences
    PARACLINICAL

 were performed in

    affected members
    PARACLINICAL

 by using

    standard assays
    PARACLINICAL

.

    Episodes of angioedema
    SYMPTOMS

 were

    clinically indistinguishable from those associated with
    SYMPTOMS

 previously described forms of

    HAE
    DIAGNOSIS

; however, these occurred only during

    pregnancy
    SYMPTOMS

 or the

    use of exogenous estrogens
    MEDICATION

. Patients were otherwise

    asymptomatic
    NEG_FINDINGS

, except for one patient who had

    acetyl salicylic acid/nonsteroidal anti-inflammatory drug-related angioedema
    MEDICATION

 later in life. History was available for members spanning 4 generations, and affected individuals were identified in 3 generations. Of 46 family members, phenotype could be determined in 13 members. Seven were affected, and 6 were not. One

    male
    GENDER

 of

    undetermined phenotype was an obligate carrier
    FAMILY

. The

    unique estrogen-dependent
    SYMPTOMS

 nature of the phenotype means that the

    status of several members in the third and fourth generation remains unknown
    FAMILY

. The disorder appears to be

    transmitted in an autosomal dominant fashion
    GENETICS

, although other modes of inheritance cannot be excluded entirely.

    C1 inhibitor protein, C1 inhibitor function, C2, C4, C1q, coagulation factor XII, prekallikrein, and high molecular kininogen were normal in 3 affected family members during asymptomatic periods
    BIOCHEMICAL

.

    DNA sequencing
    PARACLINICAL

 revealed

    no abnormality in 3 patients in the coding region of the gene encoding C1 inhibitor or in the 5' flanking regions of the genes encoding C1 inhibitor and factor XII
    NEG_FINDINGS

.

This family appears to have a

    novel form of inherited angioedema
    DIAGNOSIS

 that

    does not result from C1 inhibitor deficiency or dysfunction
    NEG_FINDINGS

. The phenotype is

    uniquely estrogen dependent
    SYMPTOMS

. Implications for diagnosis and treatment are discussed. Further studies are required to define the exact nature of the genetic abnormality involved.

hereditary angioedema (HAE)
HAE
HAE
novel form of inherited angioedema


[A rare cause of muscle pain and elevated creatine kinase level--the paroxysmal non-hereditary angioedema].

Systemic capillary leak syndrome is a rare idiopathic disorder characterized by recurrent episodes of hypotension and hemoconcentration due to sudden transient extravasation of up to 70% of plasma. Less than 40 cases have appeared in the literature. Mortality rates 5 years after diagnosis have been reported to be up to 75%. Clinical findings are generalized edema and intravasal fluid deficiency. Laboratory features include hypoalbuminemia and extreme hemoconcentration. A common finding is a monoclonal gammopathy. Rare manifestation of this syndrome is rhabdomyolysis due to increased compartment pressure and ischemic myonecrosis. Early diagnosis and exclusion of other clinical disorders like rheumatic myopathies and myositis are critical concerning prognosis and therapy. We describe a 46-year-old woman with rhabdomyolysis and systemic capillary leak syndrome whose condition is stable for a total of 30 months under a prophylactic regimen with oral terbutaline plus theophylline. A brief survey of the literature is given.

    Systemic capillary leak syndrome
    DIAGNOSIS

 is a rare

    idiopathic disorder
    DIAGNOSIS

 characterized by

    recurrent episodes of hypotension
    SYMPTOMS

 and

    hemoconcentration
    BIOCHEMICAL

 due to

    sudden transient extravasation of up to 70% of plasma
    BIOCHEMICAL

. Less than 40 cases have appeared in the literature. Mortality rates 5 years after diagnosis have been reported to be up to 75%. Clinical findings are

    generalized edema
    SYMPTOMS

 and

    intravasal fluid deficiency
    BIOCHEMICAL

. Laboratory features include

    hypoalbuminemia
    BIOCHEMICAL

 and

    extreme hemoconcentration
    BIOCHEMICAL

. A common finding is a

    monoclonal gammopathy
    DIAGNOSIS

. Rare manifestation of this syndrome is

    rhabdomyolysis
    DIAGNOSIS

 due to

    increased compartment pressure
    SYMPTOMS

 and

    ischemic myonecrosis
    SYMPTOMS

. Early diagnosis and exclusion of other clinical disorders like

    rheumatic myopathies
    DIAGNOSIS

 and

    myositis
    DIAGNOSIS

 are critical concerning prognosis and therapy. We describe a

    46-year-old
    AGE

    woman
    GENDER

 with

    rhabdomyolysis
    DIAGNOSIS

 and

    systemic capillary leak syndrome
    DIAGNOSIS

 whose

    condition is stable for a total of 30 months
    SYMPTOMS

 under a

    prophylactic regimen with oral terbutaline plus theophylline
    MEDICATION

. A brief survey of the literature is given.

Systemic capillary leak syndrome
idiopathic disorder
monoclonal gammopathy
rhabdomyolysis
rheumatic myopathies
myositis
rhabdomyolysis
systemic capillary leak syndrome


Acquired angioedema associated with sinusitis.

Acute and chronic sinusitis are major clinical problems faced by physicians in several disciplines. Although there is a much studied relationship between sinusitis and asthma, as well as a well-known association of sinusitis and Wegener's granulomatosis, there is scant evidence suggesting an association of angioedema with sinusitis. Angioedema can be extremely disfiguring, and is potentially lethal due to compromised airways. It is also a frustrating diagnostic dilemma for patients and physicians. A diagnosis is found in fewer than 25% of chronic urticaria patients and much less for angioedema. In this study, we report the cases of nine patients who were treated for chronic sinusitis, but who were referred for episodes of angioedema. Patients with a known diagnosis, such as the hereditary form, or drug or food allergies, were excluded. Based on clinical suspicion or CT scan results, nine patients were treated for chronic sinusitis. Only three had symptoms suggesting a sinus infection at presentation. After sinusitis treatment, all nine patients had a marked improvement in their angioedema. None had further severe angioedema episodes. Some patients continued to have mild episodes of angioedema, which they related to recurrence of sinusitis symptoms, and which responded to antibiotics. The nine angioedema patients in this series all had strong evidence of sinusitis, albeit, most patients had occult disease identified by CT scan. The dramatic improvement in angioedema with sinusitis treatment corroborates a causal relationship. Such findings encourage the investigation of sinusitis in these otherwise idiopathic patients. Sinusitis evaluation may also be indicated for urticaria.

    Acute and chronic sinusitis
    DIAGNOSIS

 are major clinical problems faced by physicians in several disciplines. Although there is a much studied relationship between

    sinusitis
    DIAGNOSIS

 and

    asthma
    DIAGNOSIS

, as well as a well-known association of

    sinusitis
    DIAGNOSIS

 and

    Wegener's granulomatosis
    DIAGNOSIS

, there is scant evidence suggesting an association of

    angioedema
    DIAGNOSIS

 with

    sinusitis
    DIAGNOSIS

.

    Angioedema
    DIAGNOSIS

 can be

    extremely disfiguring
    SYMPTOMS

, and is potentially lethal due to

    compromised airways
    SYMPTOMS

. It is also a frustrating diagnostic dilemma for patients and physicians. A diagnosis is found in fewer than 25% of

    chronic urticaria
    DIAGNOSIS

 patients and much less for

    angioedema
    DIAGNOSIS

. In this study, we report the cases of nine patients who were treated for

    chronic sinusitis
    DIAGNOSIS

, but who were referred for episodes of

    angioedema
    SYMPTOMS

. Patients with a known diagnosis, such as the hereditary form, or

    drug or food allergies
    NEG_FINDINGS

, were excluded. Based on clinical suspicion or

    CT scan
    PARACLINICAL

 results, nine patients were treated for

    chronic sinusitis
    DIAGNOSIS

. Only three had

    symptoms suggesting a sinus infection
    SYMPTOMS

 at presentation. After

    sinusitis treatment
    MEDICATION

, all nine patients had a

    marked improvement in their angioedema
    SYMPTOMS

.

    None had further severe angioedema episodes
    NEG_FINDINGS

. Some patients continued to have

    mild episodes of angioedema
    SYMPTOMS

, which they related to

    recurrence of sinusitis symptoms
    SYMPTOMS

, and which responded to

    antibiotics
    MEDICATION

. The nine

    angioedema
    DIAGNOSIS

 patients in this series all had

    strong evidence of sinusitis
    SYMPTOMS

, albeit, most patients had occult disease identified by

    CT scan
    SYMPTOMS

. The

    dramatic improvement in angioedema
    SYMPTOMS

 with

    sinusitis treatment
    MEDICATION

 corroborates a causal relationship. Such findings encourage the investigation of

    sinusitis
    DIAGNOSIS

 in these otherwise idiopathic patients.

    Sinusitis evaluation
    PARACLINICAL

 may also be indicated for

    urticaria
    DIAGNOSIS

.

Acute and chronic sinusitis
sinusitis
asthma
sinusitis
Wegener's granulomatosis
angioedema
sinusitis
Angioedema
chronic urticaria
angioedema
chronic sinusitis
chronic sinusitis
angioedema
sinusitis
urticaria

extremely disfiguring
compromised airways
angioedema
symptoms suggesting a sinus infection
marked improvement in their angioedema
mild episodes of angioedema
recurrence of sinusitis symptoms
strong evidence of sinusitis
CT scan
dramatic improvement in angioedema

sinusitis treatment
antibiotics
sinusitis treatment


[Hereditary Osler angioedema (report of case)].

A case of Osler's hereditary angioedema, that show a halimark of aedema of facing, neck, hands and foots, respiratory difficulty, to feel sick, to vomit, diarrhoea and abdominal pain, from the seven years old.

A case of

    Osler's hereditary angioedema
    DIAGNOSIS

, that show a

    halimark of aedema of facing, neck, hands and foots
    SYMPTOMS

,

    respiratory difficulty
    SYMPTOMS

,

    to feel sick
    SYMPTOMS

,

    to vomit
    SYMPTOMS

,

    diarrhoea
    SYMPTOMS

 and

    abdominal pain
    SYMPTOMS

,

    from the seven years old
    AGE

.


Hereditary angioneurotic edema and familial Crohn's disease.

A 29-year-old man with Crohn's disease involving the ileum and cecum was seen. He had angioneurotic edema with C1' esterase inhibitor deficiency. Later, his 50-year-old mother was evaluated because of abdominal pain. She had recurrent urticaria, C1' esterase inhibitor deficiency and radiographic studies showed Crohn's disease of the ileum. A maternal family history revealed other members affected with either Crohn's disease or angioneurotic edema. The clinical observations in this family suggest that angioneurotic edema associated with C1' esterase inhibitor deficiency may be closely linked genetically with a familial form of Crohn's disease.

A

    29-year-old
    AGE

    man
    GENDER

 with

    Crohn's disease involving the ileum and cecum
    SYMPTOMS

 was seen.

    He
    GENDER

 had

    angioneurotic edema
    SYMPTOMS

 with

    C1' esterase inhibitor deficiency
    BIOCHEMICAL

. Later,

    his
    GENDER

    50-year-old
    AGE

    mother
    GENDER

 was evaluated because of

    abdominal pain
    SYMPTOMS

.

    She
    GENDER

 had

    recurrent urticaria
    SYMPTOMS

,

    C1' esterase inhibitor deficiency
    BIOCHEMICAL

 and

    radiographic studies
    PARACLINICAL

 showed

    Crohn's disease of the ileum
    MICROSCOPIC

. A

    maternal family history revealed other members affected with either Crohn's disease or angioneurotic edema
    FAMILY

. The clinical observations in this family suggest that

    angioneurotic edema
    SYMPTOMS

 associated with

    C1' esterase inhibitor deficiency
    BIOCHEMICAL

 may be

    closely linked genetically with a familial form of Crohn's disease
    GENETICS

.

C1' esterase inhibitor deficiency
C1' esterase inhibitor deficiency
C1' esterase inhibitor deficiency


Management of children with hereditary angioedema: a report of two cases.

Dentists must take extreme care in treating patients with Hereditary Angioedema (HAE). Physical trauma, emotional stress, or anxiety during dental treatment could lead to an acute attack that may lead to a laryngeal obstruction. This article reviews clinical signs and symptoms, disease classification, pathophysiology, and treatment recommendations for HAE. Management of 2 patients with HAE is also presented.

Dentists must take extreme care in treating patients with

    Hereditary Angioedema (HAE)
    DIAGNOSIS

.

    Physical trauma
    SYMPTOMS

,

    emotional stress
    SYMPTOMS

, or

    anxiety
    SYMPTOMS

 during

    dental treatment
    MEDICATION

 could lead to an

    acute attack
    SYMPTOMS

 that may lead to a

    laryngeal obstruction
    SYMPTOMS

. This article reviews clinical signs and symptoms, disease classification, pathophysiology, and treatment recommendations for

    HAE
    DIAGNOSIS

. Management of 2 patients with

    HAE
    DIAGNOSIS

 is also presented.

Physical trauma
emotional stress
anxiety
acute attack
laryngeal obstruction


Asphyxiation by laryngeal edema in patients with hereditary angioedema.

To describe the occurrence of fatal laryngeal edema in patients with hereditary angioedema due to C1 esterase inhibitor deficiency.

We describe 6 patients from various regions of Germany who died from laryngeal edema within the last 10 years. Furthermore, we conducted a retrospective survey of 58 patients with hereditary angioedema, originating from 46 affected families. The data were obtained from the attending physicians and from the patients' relatives.

Among the 6 reported patients, aged 9 to 78 years, hereditary angioedema had been diagnosed in 3 and was undiagnosed in 3. None of them had an emergency cricothyrotomy or received C1 inhibitor concentrate. The interval between onset of the laryngeal edema and asphyxiation was 20 minutes in a 9-year-old boy, and in the other patients, the interval was 1 to 14 hours (mean for all, 7 hours). The retrospective survey of 58 patients with hereditary angioedema revealed 23 deaths by asphyxiation (40%). The average age of all 29 patients at the time of asphyxiation was 39 years.

Laryngeal edema in hereditary angioedema may be fatal. Most of the patients asphyxiated between their 20th and 50th years of life, but asphyxiation can occur even in children. The possibility that the first episode of laryngeal edema may be fatal must be emphasized to the relatives, and attending physicians must have a high degree of awareness.

To describe the occurrence of

    fatal laryngeal edema
    SYMPTOMS

 in patients with

    hereditary angioedema
    DIAGNOSIS

 due to

    C1 esterase inhibitor deficiency
    BIOCHEMICAL

.

We describe 6 patients from various regions of

    Germany
    ETHNICITY

 who

    died
    SYMPTOMS

 from

    laryngeal edema
    SYMPTOMS

 within the last 10 years. Furthermore, we conducted a retrospective survey of 58 patients with

    hereditary angioedema
    DIAGNOSIS

, originating from 46 affected families. The data were obtained from the

    attending physicians
    PARACLINICAL

 and from the patients' relatives.

Among the 6 reported patients,

    aged 9 to 78 years
    AGE

,

    hereditary angioedema
    DIAGNOSIS

 had been diagnosed in 3 and was undiagnosed in 3.

    None
    NEG_FINDINGS

 of them had an

    emergency cricothyrotomy
    MEDICATION

    or received C1 inhibitor concentrate
    NEG_FINDINGS

. The interval between

    onset of the laryngeal edema
    SYMPTOMS

 and

    asphyxiation
    SYMPTOMS

 was 20 minutes in a

    9-year-old
    AGE

    boy
    GENDER

, and in the other patients, the interval was

    1 to 14 hours
    AGE

 (mean for all, 7 hours). The retrospective survey of 58 patients with

    hereditary angioedema
    DIAGNOSIS

 revealed 23

    deaths
    SYMPTOMS

 by

    asphyxiation
    SYMPTOMS

 (40%). The

    average age of
    AGE

 all 29 patients at the time of

    asphyxiation
    SYMPTOMS

    was 39 years
    AGE

.

    Laryngeal edema
    SYMPTOMS

 in

    hereditary angioedema
    DIAGNOSIS

 may be

    fatal
    SYMPTOMS

. Most of the patients asphyxiated

    between their 20th and 50th years of life
    AGE

, but

    asphyxiation
    SYMPTOMS

 can occur even in

    children
    AGE

. The possibility that the first episode of

    laryngeal edema
    SYMPTOMS

 may be fatal must be emphasized to the relatives, and attending physicians must have a high degree of awareness.

fatal laryngeal edema
died
laryngeal edema
onset of the laryngeal edema
asphyxiation
deaths
asphyxiation
asphyxiation
Laryngeal edema
fatal
asphyxiation
laryngeal edema

hereditary angioedema
hereditary angioedema
hereditary angioedema
hereditary angioedema
hereditary angioedema


AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.

Glycerol kinase deficiency has three distinct forms: an isolated form which may be benign or symptomatic, and a complex form which is symptomatic and part of an Xp21 contiguous gene syndrome. Here we report the case of a male with benign isolated glycerol kinase deficiency who was incidentally identified after observation of pseudohypertriglyceridemia. DNA sequencing of this subject's glycerol kinase gene showed the insertion of an AluY sequence in intron 4 of the glycerol kinase gene. Although Alu insertions have been implicated in other diseases, and a closely related AluY element is found as an insert in the C1 inhibitor gene in patients with hereditary angioedema, this is the first case of glycerol kinase deficiency caused by an Alu insertion.

    Glycerol kinase deficiency
    BIOCHEMICAL

 has three distinct forms: an isolated form which may be benign or symptomatic, and a complex form which is symptomatic and part of an

    Xp21 contiguous gene syndrome
    GENETICS

. Here we report the case of a

    male
    GENDER

 with

    benign isolated glycerol kinase deficiency
    BIOCHEMICAL

 who was incidentally identified after observation of

    pseudohypertriglyceridemia
    BIOCHEMICAL

.

    DNA sequencing of
    PARACLINICAL

 this

    subject's glycerol kinase gene
    PARACLINICAL

 showed the

    insertion of an AluY sequence in intron 4 of the glycerol kinase gene
    GENETICS

. Although

    Alu insertions
    GENETICS

 have been implicated in other diseases, and a

    closely related AluY element is found as an insert in the C1 inhibitor gene
    GENETICS

 in patients with

    hereditary angioedema
    DIAGNOSIS

, this is the first case of

    glycerol kinase deficiency
    BIOCHEMICAL

 caused by an

    Alu insertion
    GENETICS

.


Two cases of Townes-Brocks syndrome.

Townes-Brocks syndrome (TBS) has been recognized as a dominant inherited syndrome. We report 2 cases of TBS. Case 1 was operated on for imperforate anus. Triphalangeal thumb and ear anomalies were remarkable. Deafness was diagnosed when the patient was 6 months old. Anomalies of the semicircular canals and the incus with inculomalleolar fusion were shown when the patient was 3.5 years old. During childhood, recurrent episodes of abdominal pain appeared. The diagnosis of hereditary angioneurotic edema (HANE) was made. HANE was familial as the father, the father's brother and the paternal grand mother were also affected. The parents of case 2, a female, are both mildly mentally retarded. This was the first pregnancy of the mother who had short stature. The child had an antepositioned anus, bifid right thumb, large toes, low set ears, microretrognathia and deafness. A (5, 16) translocation was observed in a child with TBS. At the breakpoint in 16q21.1, a gene coding for a transcription factor SALL1 has been identified and it was shown that mutations in the putative zinc finger of SALL1 cause TBS.

    Townes-Brocks syndrome (TBS)
    DIAGNOSIS

 has been recognized as a

    dominant inherited syndrome
    GENETICS

. We report 2 cases of

    TBS
    DIAGNOSIS

. Case 1 was

    operated on
    MEDICATION

 for

    imperforate anus
    MEDICATION

.

    Triphalangeal thumb
    SYMPTOMS

 and

    ear anomalies
    SYMPTOMS

 were remarkable.

    Deafness
    SYMPTOMS

 was diagnosed when the patient

    was 6 months old
    AGE

.

    Anomalies of the semicircular canals and the incus with inculomalleolar fusion
    SYMPTOMS

 were shown when the patient

    was 3.5 years old
    AGE

. During

    childhood
    AGE

,

    recurrent episodes of abdominal pain
    SYMPTOMS

 appeared. The diagnosis of

    hereditary angioneurotic edema (HANE)
    DIAGNOSIS

 was made.

    HANE
    DIAGNOSIS

    was familial as the father, the father's brother and the paternal grand mother were also affected
    FAMILY

.

    The parents of case 2, a female
    FAMILY

    , are both mildly mentally retarded
    FAMILY

. This was the first pregnancy of the

    mother who had short stature
    FAMILY

. The

    child
    AGE

 had an

    antepositioned anus
    SYMPTOMS

,

    bifid right thumb
    SYMPTOMS

,

    large toes
    SYMPTOMS

,

    low set ears
    SYMPTOMS

,

    microretrognathia
    SYMPTOMS

 and

    deafness
    SYMPTOMS

.

    A (5, 16) translocation
    GENETICS

 was observed in a

    child
    AGE

 with

    TBS
    DIAGNOSIS

. At the

    breakpoint in 16q21.1
    GENETICS

, a

    gene coding for a transcription factor SALL1
    GENETICS

 has been identified and it was shown that

    mutations in the putative zinc finger of SALL1
    GENETICS

 cause

    TBS
    DIAGNOSIS

.

Townes-Brocks syndrome (TBS)
TBS
hereditary angioneurotic edema (HANE)
HANE
TBS
TBS


Sonographic findings in abdominal hereditary angioedema.

Patients with hereditary angioedema (HAE) may suffer from abdominal pain severe enough to prompt unnecessary surgical intervention. The diagnostic approach to abdominal pain during HAE attacks is not established. We describe abdominal sonographic findings during severe colic in 2 patients with known HAE. Sonography demonstrated marked mucosal thickening and edema of the bowel wall with a variable amount of free peritoneal fluid. These findings are not specific but are consistent with the hypothesized mechanism of attack and resolve after therapy. Abdominal sonography is useful for evaluating acute abdominal pain in patients with known HAE to prevent unnecessary surgery. Conversely, if the described sonographic findings appear in a case of abdominal colic of unknown origin, HAE should be included in the differential diagnosis.

Patients with

    hereditary angioedema (HAE)
    DIAGNOSIS

 may suffer from

    abdominal pain severe enough
    SYMPTOMS

 to prompt

    unnecessary surgical intervention
    NEG_FINDINGS

. The diagnostic approach to

    abdominal pain
    SYMPTOMS

 during

    HAE attacks
    DIAGNOSIS

 is not established. We describe

    abdominal sonographic findings
    PARACLINICAL

 during

    severe colic
    SYMPTOMS

 in 2 patients with known

    HAE
    DIAGNOSIS

.

    Sonography
    PARACLINICAL

 demonstrated

    marked mucosal thickening and edema of the bowel wall
    SYMPTOMS

 with a

    variable amount of free peritoneal fluid
    SYMPTOMS

. These findings are not specific but are consistent with the hypothesized mechanism of attack and resolve after therapy.

    Abdominal sonography
    PARACLINICAL

 is useful for evaluating

    acute abdominal pain
    SYMPTOMS

 in patients with known

    HAE
    DIAGNOSIS

 to prevent

    unnecessary surgery
    MEDICATION

. Conversely, if the described sonographic findings appear in a case of

    abdominal colic of unknown origin
    SYMPTOMS

,

    HAE
    DIAGNOSIS

 should be included in the

    differential diagnosis
    PARACLINICAL

.

hereditary angioedema (HAE)
HAE attacks
HAE
HAE
HAE


[Uvular edema. Diagnostic, etiologic and therapeutic management].

Acute oedema of the uvula is relatively rare, and often idiopathic. None the less, possible causes should be excluded, such as allergy, infection, trauma or mechanical. Hereditary angioneurotic oedema should be excluded when there are identical recurrent episodes. Although three of our patients had a recent herpetic viral infection, it does not seem likely that this was the cause. Treatment consists mainly or antihistamines, steroids, antibiotics, or specific treatment for hereditary angioneurotic oedema. The clinician must always bear in mind the potential seriousness or this condition as a cause of obstruction of the upper airway. In the light of four recent cases, the authors discuss the diagnosis, cause and treatment of this particular condition.

    Acute oedema of the uvula
    SYMPTOMS

 is relatively rare, and often

    idiopathic
    DIAGNOSIS

. None the less, possible causes should be excluded, such as

    allergy
    SYMPTOMS

,

    infection
    SYMPTOMS

,

    trauma
    SYMPTOMS

 or

    mechanical
    SYMPTOMS

.

    Hereditary angioneurotic oedema
    DIAGNOSIS

 should be excluded when there are

    identical recurrent episodes
    SYMPTOMS

. Although three of our patients had a recent

    herpetic viral infection
    DIAGNOSIS

, it does not seem likely that this was the cause.

    Treatment consists mainly or antihistamines, steroids, antibiotics
    MEDICATION

, or

    specific treatment
    MEDICATION

 for

    hereditary angioneurotic oedema
    DIAGNOSIS

. The clinician must always bear in mind the potential seriousness or this condition as a cause of

    obstruction of the upper airway
    SYMPTOMS

. In the light of four recent cases, the authors discuss the diagnosis, cause and treatment of this particular condition.

Acute oedema of the uvula
allergy
infection
trauma
mechanical
identical recurrent episodes
obstruction of the upper airway

idiopathic
Hereditary angioneurotic oedema
herpetic viral infection
hereditary angioneurotic oedema


Angioedema due to acquired C1-esterase inhibitor deficiency in a patient with Helicobacter pylori infection.

The first component of the classical pathway of the complement system, C1 is regulated by a serum protein, the C1-esterase inhibitor (C1-INH). Deficiency of this protein leads to the release of vasoactive mediators (C2 kinin and bradykinin) that increase vascular permeability and can induce edema formation in subcutaneous and submucosal tissues. The genetic variant of C1-INH deficiency is inherited as an autosomal dominant trait and causes hereditary angioneurotic edema. The acquired form of C1-INH deficiency is characterized by similar manifestations and can occur in association with lymphoproliferative diseases, malignancy, immune disorders, and infections. The authors present a case of acquired C1-INH deficiency in a patient with Helicobacter pylori infection. Complete eradication of this pathogen was followed by the resolution of symptoms and normalization of serum complement levels. It seems therefore probable that in this patient, acquired C1-INH deficiency was related to Helicobacter pylori infection. To our best knowledge, no similar observations have been published so far. Specific immune reactions are important contributing factors in H. pylori. Excessive consumption of complement by antibodies directed against H. pylori is a potential cause of C1-INH deficiency observed in our case.

The first component

    of the classical pathway of the complement system
    BIOCHEMICAL

,

    C1
    BIOCHEMICAL

 is regulated by a

    serum protein, the C1-esterase inhibitor (C1-INH)
    BIOCHEMICAL

.

    Deficiency of this protein
    BIOCHEMICAL

 leads to the

    release of vasoactive mediators (C2 kinin and bradykinin)
    BIOCHEMICAL

 that

    increase vascular permeability
    SYMPTOMS

 and can induce

    edema formation in subcutaneous and submucosal tissues
    SYMPTOMS

. The

    genetic variant of C1-INH deficiency
    GENETICS

    is inherited as an autosomal dominant trait
    GENETICS

 and causes

    hereditary angioneurotic edema
    SYMPTOMS

. The acquired form of

    C1-INH deficiency
    BIOCHEMICAL

 is characterized by similar manifestations and can occur in association with

    lymphoproliferative diseases
    DIAGNOSIS

,

    malignancy
    DIAGNOSIS

,

    immune disorders
    DIAGNOSIS

, and

    infections
    SYMPTOMS

. The authors present a case of

    acquired C1-INH deficiency
    BIOCHEMICAL

 in a patient with

    Helicobacter pylori infection
    DIAGNOSIS

.

    Complete eradication of this pathogen
    MEDICATION

 was followed by the

    resolution of symptoms
    SYMPTOMS

 and

    normalization of serum complement levels
    BIOCHEMICAL

. It seems therefore probable that in this patient,

    acquired C1-INH deficiency
    BIOCHEMICAL

 was related to

    Helicobacter pylori infection
    DIAGNOSIS

. To our best knowledge, no similar observations have been published so far.

    Specific immune reactions
    MICROSCOPIC

 are important contributing factors in

    H. pylori
    DIAGNOSIS

.

    Excessive consumption of complement by antibodies directed against H. pylori
    BIOCHEMICAL

 is a potential cause of

    C1-INH deficiency
    BIOCHEMICAL

 observed in our case.

lymphoproliferative diseases
malignancy
immune disorders
Helicobacter pylori infection
Helicobacter pylori infection
H. pylori


[Hereditary angioedema. Diagnostic and treatment errors as systemic lupus erythematosus].

Symptoms of hereditary angioedema are intermittent edema of subcutaneous tissues, abdominal organs, upper airways, and brain. Because of spontaneous mutation, in 20% of patients a familial history is lacking. Serological hallmarks are diminished complement factor 4 and C1-esterase inhibitor. The heterogenicity of the clinical symptoms frequently leads to false or delayed diagnosis.

We report on a 50-year-old male patient with intermittent joint swellings, abdominal complaints, pleural effusions, ascites and headaches with disturbances of consciousness since early adulthood. Diagnosis was systemic lupus erythematosus. Immunosuppressive therapy was ineffective over months. Careful re-evaluation of the patient's clinical history and further laboratory examinations led to the diagnosis of an hereditary angioedema. Anamnestic and laboratory exploration of family members disclosed four other cases. Two of them also were symptomatic for decades without adequate diagnosis.

In case of intermittent swellings, abdominal complaints, laryngeal edema, pleural effusions or ascites, differential diagnosis should involve hereditary angioedema. With early diagnosis and adequate treatment, prognosis is good. Since ACE inhibitors can aggravate the disease they are contraindicated. Diagnosis, pathogenesis, and treatment are discussed by reviewing the literature.

Symptoms of

    hereditary angioedema
    DIAGNOSIS

 are

    intermittent edema of subcutaneous tissues, abdominal organs, upper airways, and brain
    SYMPTOMS

. Because of

    spontaneous mutation
    GENETICS

, in 20% of patients a

    familial history
    FAMILY

 is lacking. Serological hallmarks are

    diminished complement factor 4 and C1-esterase inhibitor
    BIOCHEMICAL

. The

    heterogenicity of the clinical symptoms
    SYMPTOMS

 frequently leads to false or delayed diagnosis.

We report on a

    50-year-old
    AGE

    male
    GENDER

 patient with

    intermittent joint swellings
    SYMPTOMS

,

    abdominal complaints
    SYMPTOMS

,

    pleural effusions
    SYMPTOMS

,

    ascites
    SYMPTOMS

 and

    headaches
    SYMPTOMS

 with

    disturbances of consciousness
    SYMPTOMS

 since

    early adulthood
    AGE

. Diagnosis was

    systemic lupus erythematosus
    DIAGNOSIS

.

    Immunosuppressive therapy was ineffective over months
    NEG_FINDINGS

. Careful re-evaluation of the patient's clinical history and further

    laboratory examinations
    PARACLINICAL

 led to the diagnosis of an

    hereditary angioedema
    DIAGNOSIS

.

    Anamnestic and laboratory exploration of family members
    PARACLINICAL

 disclosed four other cases. Two of them also were symptomatic for decades

    without adequate diagnosis
    NEG_FINDINGS

.

In case of

    intermittent swellings
    SYMPTOMS

,

    abdominal complaints
    SYMPTOMS

,

    laryngeal edema
    SYMPTOMS

,

    pleural effusions
    SYMPTOMS

 or

    ascites
    SYMPTOMS

,

    differential diagnosis
    PARACLINICAL

 should involve

    hereditary angioedema
    DIAGNOSIS

. With early diagnosis and adequate treatment, prognosis is good. Since

    ACE inhibitors
    MEDICATION

 can

    aggravate the disease
    SYMPTOMS

 they are contraindicated. Diagnosis, pathogenesis, and treatment are discussed by reviewing the literature.

hereditary angioedema
systemic lupus erythematosus
hereditary angioedema
hereditary angioedema


Hereditary angioedema with gastrointestinal involvement: endoscopic appearance.

We present the first reported case of hereditary angioedema (HAE) with gastric involvement to be successfully evaluated by endoscopy both during and after an attack. A 31-year-old man who had a family history of angioedema was admitted to our hospital with complaints of abdominal pain and swelling of extremities. Computed tomography scan and endoscopy carried out during this attack revealed transient gastrointestinal wall edema which, along with decreased levels of serum C4 and C1 inhibitor, confirmed the diagnosis of HAE with gastrointestinal involvement. During the attack, the gastric mucosa was erythematous and edematous, and parts of its surface bulged into the gastric lumen, resembling a submucosal tumor, as a result of massive submucosal edema. During the healing process, a number of small nodules and raised erosions developed over the entire gastric mucosal surface after healing of prominent gastric edema. Within 55 days, the gastric mucosa had returned to normal. The endoscopic findings for the stomach in HAE have not, to our knowledge, been previously described.

We present the first reported case of

    hereditary angioedema (HAE)
    DIAGNOSIS

 with

    gastric involvement
    SYMPTOMS

 to be successfully evaluated by

    endoscopy
    PARACLINICAL

 both during and after an attack. A

    31-year-old
    AGE

    man
    GENDER

 who had a

    family history of angioedema
    FAMILY

 was admitted to our hospital with complaints of

    abdominal pain
    SYMPTOMS

 and

    swelling of extremities
    SYMPTOMS

.

    Computed tomography scan
    PARACLINICAL

 and

    endoscopy
    PARACLINICAL

 carried out during this attack revealed

    transient gastrointestinal wall edema
    SYMPTOMS

 which, along with

    decreased levels of serum C4 and C1 inhibitor
    BIOCHEMICAL

, confirmed the diagnosis of

    HAE
    DIAGNOSIS

 with

    gastrointestinal involvement
    SYMPTOMS

. During the attack,

    the gastric mucosa was erythematous and edematous
    SYMPTOMS

, and

    parts of its surface bulged into the gastric lumen, resembling a submucosal tumor
    SYMPTOMS

, as a result of

    massive submucosal edema
    SYMPTOMS

. During the healing process,

    a number of small nodules and raised erosions developed over the entire gastric mucosal surface
    SYMPTOMS

 after

    healing of prominent gastric edema
    SYMPTOMS

. Within 55 days,

    the gastric mucosa had returned to normal
    SYMPTOMS

. The endoscopic findings for the stomach in

    HAE
    DIAGNOSIS

 have not, to our knowledge, been previously described.


Angioedema presenting in the retropharyngeal space in an adult.

Hereditary angioedema is a rare disorder of deficient or dysfunctional C1-esterase inhibitor and usually manifests as edema of the face, tongue, supraglottis, extremities, or gastrointestinal tract. We report the case of a 40-year-old man with known hereditary angioedema who presented with a sore throat and a sensation of evolving airway obstruction. After a thorough search of the medical literature, we believe this to be the first reported case of angioedema manifesting in the retropharyngeal space. The pathophysiological factors of angioedema are discussed, along with its variable presentation and management issues.

Laryngoscopic examination was suggestive of posterior pharyngeal fullness; therefore, a computed tomographic scan of the neck was obtained, which showed a non-contrast-enhancing retropharyngeal edema from the base of the skull to below the level of the glottis. The patient had a history of multiple episodes of angioedema requiring hospitalization and three prior tracheotomies.

Familiarity with the patient's history directed his rapid treatment course (including intravenous stanozolol, Solu-Medrol, and diphenhydramine), which significantly reduced his edema and avoided the need for tracheotomy.

Hereditary angioedema may present in atypical locations, and expeditious treatment in a patient with a known history may avert the sequelae of evolving airway obstruction.

    Hereditary angioedema
    DIAGNOSIS

 is a rare disorder of

    deficient or dysfunctional C1-esterase inhibitor
    BIOCHEMICAL

 and usually manifests as

    edema of the face, tongue, supraglottis, extremities, or gastrointestinal tract
    SYMPTOMS

. We report the case of a

    40-year-old
    AGE

    man
    GENDER

 with known

    hereditary angioedema
    DIAGNOSIS

 who presented with a

    sore throat
    SYMPTOMS

 and a

    sensation of evolving airway obstruction
    SYMPTOMS

. After a thorough search of the medical literature, we believe this to be the first reported case of

    angioedema manifesting in the retropharyngeal space
    SYMPTOMS

. The pathophysiological factors of

    angioedema
    DIAGNOSIS

 are discussed, along with its variable presentation and management issues.

    Laryngoscopic examination
    PARACLINICAL

 was suggestive of

    posterior pharyngeal fullness
    SYMPTOMS

; therefore, a

    computed tomographic scan of the neck
    PARACLINICAL

 was obtained, which showed a

    non-contrast-enhancing retropharyngeal edema from the base of the skull to below the level of the glottis
    SYMPTOMS

. The patient had a history of

    multiple episodes of angioedema
    SYMPTOMS

    requiring hospitalization
    MEDICATION

 and

    three prior tracheotomies
    MEDICATION

.

Familiarity with the patient's history directed his

    rapid treatment course (including intravenous stanozolol, Solu-Medrol, and diphenhydramine)
    MEDICATION

, which

    significantly reduced his edema
    SYMPTOMS

 and

    avoided the need for tracheotomy
    NEG_FINDINGS

.

    Hereditary angioedema
    DIAGNOSIS

 may present in atypical locations, and expeditious treatment in a patient with a known history may avert the sequelae of

    evolving airway obstruction
    SYMPTOMS

.

Hereditary angioedema
hereditary angioedema
angioedema
Hereditary angioedema


Coincidence of hereditary angioedema (HAE) with Crohn's disease.

A patient with two diseases, based presumably on different immunopathological mechanisms, hereditary angioedema (HAE) and Crohn's disease, was followed for 8 years. For more than three years of this observation period, detailed laboratory data were also available and could be analyzed. Both diseases had severe courses requiring chronic treatment with danazol and sulfasalazine, respectively. During exacerbation of Crohn's disease, the levels of C4 was found to be significantly lower than during the periods free of symptoms of both diseases. This drop was probably due to an impaired C1-inhibitor activity. HAE attacks and acute exacerbation of Crohn's disease never occurred simultaneously. This finding may be a mere chance but may also indicate that the different immunopathological processes underlying HAE and Crohn's disease influence each other.

A patient with two diseases, based presumably on different immunopathological mechanisms,

    hereditary angioedema (HAE)
    DIAGNOSIS

 and

    Crohn's disease
    DIAGNOSIS

, was followed for 8 years. For more than three years of this observation period, detailed laboratory data were also available and could be analyzed. Both diseases had

    severe courses
    SYMPTOMS

 requiring

    chronic treatment with danazol and sulfasalazine
    MEDICATION

, respectively. During

    exacerbation of Crohn's disease
    DIAGNOSIS

,

    the levels of C4 was found to be significantly lower than during the periods free of symptoms of both diseases
    BIOCHEMICAL

. This

    drop
    BIOCHEMICAL

 was probably due to an

    impaired C1-inhibitor activity
    BIOCHEMICAL

.

    HAE attacks
    SYMPTOMS

 and

    acute exacerbation of Crohn's disease
    SYMPTOMS

 never occurred simultaneously. This finding may be a mere chance but may also indicate that the different immunopathological processes underlying

    HAE
    DIAGNOSIS

 and

    Crohn's disease
    DIAGNOSIS

 influence each other.

hereditary angioedema (HAE)
Crohn's disease
exacerbation of Crohn's disease
HAE
Crohn's disease

severe courses
HAE attacks
acute exacerbation of Crohn's disease


Chronic angioedema. Three relevant cases.

Three cases of clinical angioedema are reported in which the etiopathogenetic involvement of qualitative and quantitative complement disorders was demonstrated. The first patient had a functional deficit in C1 inhibitor, the second had a decrease in CH50, and the third, a reduction in the C1q, C3, and C4 fractions. The cases are interesting because of occasional difficulties in the causal diagnosis, the severity of the symptoms, which can include laryngeal edema, and, finally, the favorable outcome achieved with correct medication, which did not include antihistamines or steroids. The clinical picture of hereditary angioedema is characterized by the familial occurrence of the process, although this apparently was absent in these cases. Two patients experienced laryngeal edema and none had abdominal manifestations. The treatment of choice for angioedema of these characteristics is antifibrinolytic agents, which achieve good results in 70% of the patients. Epsilon-aminocaproic acid and tranexamic acid inhibit the formation of plasmin and fragments of the Hageman factor, thus inhibiting kallikrein and bradykinin production. The androgens danazol and stanazolol have been used since the 1970s, and stanazolol proved to be very effective in two of our patients.

Three cases of

    clinical angioedema
    DIAGNOSIS

 are reported in which the etiopathogenetic involvement of

    qualitative and quantitative complement disorders
    BIOCHEMICAL

 was demonstrated. The first patient had a

    functional deficit in C1 inhibitor
    BIOCHEMICAL

, the second had a

    decrease in CH50
    BIOCHEMICAL

, and the third, a

    reduction in the C1q, C3, and C4 fractions
    BIOCHEMICAL

. The cases are interesting because of occasional difficulties in the causal diagnosis, the severity of the symptoms, which can include

    laryngeal edema
    SYMPTOMS

, and, finally, the favorable outcome achieved with

    correct medication
    MEDICATION

, which

    did not include antihistamines or steroids
    NEG_FINDINGS

. The clinical picture of

    hereditary angioedema
    DIAGNOSIS

 is characterized by the

    familial occurrence of the process
    FAMILY

, although this apparently was absent in these cases. Two patients experienced

    laryngeal edema
    SYMPTOMS

 and

    none had abdominal manifestations
    NEG_FINDINGS

. The treatment of choice for

    angioedema
    DIAGNOSIS

 of these characteristics is

    antifibrinolytic agents
    MEDICATION

, which achieve good results in 70% of the patients.

    Epsilon-aminocaproic acid and tranexamic acid
    MEDICATION

    inhibit the formation of plasmin and fragments of the Hageman factor
    BIOCHEMICAL

, thus

    inhibiting kallikrein and bradykinin production
    BIOCHEMICAL

. The

    androgens danazol and stanazolol
    MEDICATION

 have been used since the 1970s, and

    stanazolol
    MEDICATION

 proved to be very effective in two of our patients.

clinical angioedema
hereditary angioedema
angioedema


[Hereditary angioedema. A rare cause of acute abdominal pain with ascites].

Since the age of 16 years a now 25-year-old woman had been known to have C1-inhibitor (C1-INH) deficiency. She presented herself at the emergency department because of acute severe lower abdominal cramps. A urinary infection had been treated with antibiotics for the previous 4 days. There was marked pain on pressure over the lower abdomen, but there were no signs of peritonitis and bowel sound were normal. There had been no nausea or vomiting and the stools had been normal.

There was a leukocytosis of 10,200/microliter, moderately elevated C-reactive protein (44.8 mg/l), haemoglobin concentration of 17 g/dl and haematocrit of 51%. Radiology revealed oedema of the duodenum and sonography showed free fluid in the abdomen.

After excluding an acute abdomen and in view of the C1-INH deficiency treatment was symptomatic. All symptoms completely disappeared after 2 days.

Exclusively gastrointestinal symptoms and ascites are rare in patients with hereditary angioedema. But knowledge of this manifestation of the disease is important because patients are sometimes operated under the false diagnosis of acute abdomen. In severe cases symptomatic treatment may have to be supplemented by C1-INH administration. Prevention with attenuated androgens should be started or modified, respectively.

Since the

    age of 16 years
    AGE

 a

    now 25-year-old
    AGE

    woman
    GENDER

 had been known to have

    C1-inhibitor (C1-INH) deficiency
    BIOCHEMICAL

.

    She
    GENDER

 presented herself at the emergency department because of

    acute severe lower abdominal cramps
    SYMPTOMS

. A

    urinary infection
    DIAGNOSIS

 had been

    treated with antibiotics for the previous 4 days
    MEDICATION

. There was

    marked pain on pressure over the lower abdomen
    SYMPTOMS

, but there were

    no signs of peritonitis
    NEG_FINDINGS

 and

    bowel sound were normal
    NEG_FINDINGS

. There had been

    no nausea or vomiting
    NEG_FINDINGS

 and the

    stools had been normal
    NEG_FINDINGS

.

There was a

    leukocytosis of 10,200/microliter
    BIOCHEMICAL

,

    moderately elevated C-reactive protein (44.8 mg/l)
    BIOCHEMICAL

,

    haemoglobin concentration of 17 g/dl
    BIOCHEMICAL

 and

    haematocrit of 51%
    BIOCHEMICAL

.

    Radiology
    PARACLINICAL

 revealed

    oedema of the duodenum
    SYMPTOMS

 and

    sonography
    PARACLINICAL

 showed

    free fluid in the abdomen
    SYMPTOMS

.

After

    excluding an acute abdomen
    NEG_FINDINGS

 and in view of the

    C1-INH deficiency
    BIOCHEMICAL

 treatment was symptomatic.

    All symptoms completely disappeared after 2 days
    SYMPTOMS

.

    Exclusively gastrointestinal symptoms
    SYMPTOMS

 and

    ascites
    SYMPTOMS

 are rare in patients with

    hereditary angioedema
    DIAGNOSIS

. But knowledge of this manifestation of the disease is important because patients are sometimes operated under the false diagnosis of

    acute abdomen
    SYMPTOMS

. In severe cases

    symptomatic treatment
    MEDICATION

 may have to be supplemented by

    C1-INH administration
    MEDICATION

.

    Prevention with attenuated androgens
    MEDICATION

 should be started or modified, respectively.

no signs of peritonitis
bowel sound were normal
no nausea or vomiting
stools had been normal
excluding an acute abdomen


General anaesthetic for a pilonidal sinus excision in a patient with hereditary angio-oedema.

Hereditary angio-oedema is an autosomal dominant condition resulting in a deficiency of C1 esterase inhibitor protein in serum. The condition is characterized by oedematous attacks in the skin, mucous membranes and gastrointestinal tract triggered by mental and physical stress. We present the rare case of a young girl with known hereditary angio-oedema and spina bifida occulta being admitted for an elective pilonidal sinus excision. This case presented different challenges for the anaesthetists and surgeons.

    Hereditary angio-oedema
    DIAGNOSIS

 is an

    autosomal dominant
    GENETICS

 condition resulting in a

    deficiency of C1 esterase inhibitor protein in serum
    BIOCHEMICAL

. The condition is characterized by

    oedematous attacks in the skin, mucous membranes and gastrointestinal tract
    SYMPTOMS

 triggered by

    mental and physical stress
    SYMPTOMS

. We present the rare case of a

    young
    AGE

    girl
    GENDER

 with known

    hereditary angio-oedema
    DIAGNOSIS

 and

    spina bifida occulta
    DIAGNOSIS

 being admitted for an

    elective pilonidal sinus excision
    MEDICATION

. This case presented different challenges for the

    anaesthetists
    PARACLINICAL

 and surgeons.

Hereditary angio-oedema
hereditary angio-oedema
spina bifida occulta


Hereditary angioneurotic edema and thromboembolic diseases: I: How symptoms of acute attacks change with aging.

Localized edema of the larynx and pharynx leading to death from asphyxia has long been recognized as a characteristic symptom of hereditary angioneurotic edema (HANE). Long-term follow-up of younger HANE patients has revealed that transient localized acute attacks of edema affect tissues where the microcirculation maintains the blood supply. However, with aging, HANE attacks precipitate disseminated intravascular coagulation (DIC) or multiple organ failure (MOF). Substitution with a C1-inhibitor (C1-INH) has resulted in a fulminant lethal end with a rapid and profound decrease in antithrombin-III (AT-III) activity. A possible mechanism is as follows: Exogenous stimuli activate plasma proteinase systems with the generation of plasma kallikrein that activates the tissue factor pathway (TF) and liberates bradykinin (BK). In younger patients, BK enhances vascular permeability. In the elderly, activated TF is controlled by tissue factor pathway inhibitor (TFPI) and generates thrombin, which is the target enzyme of AT-III and precipitates DIC or MOF. In elderly patients, the characteristic symptom of HANE is hypercoagulation by age-related changes in the biosynthesis of AT-III or TFPI.

    Localized edema of the larynx and pharynx
    SYMPTOMS

 leading to

    death from asphyxia
    SYMPTOMS

 has long been recognized as a characteristic symptom of

    hereditary angioneurotic edema (HANE)
    DIAGNOSIS

. Long-term follow-up of

    younger
    AGE

    HANE
    DIAGNOSIS

 patients has revealed that

    transient localized acute attacks of edema affect tissues where the microcirculation maintains the blood supply
    SYMPTOMS

. However, with

    aging
    AGE

,

    HANE
    DIAGNOSIS

 attacks precipitate

    disseminated intravascular coagulation (DIC)
    SYMPTOMS

 or

    multiple organ failure (MOF)
    SYMPTOMS

.

    Substitution with a C1-inhibitor (C1-INH)
    MEDICATION

 has resulted in a

    fulminant lethal end
    SYMPTOMS

 with a

    rapid and profound decrease in antithrombin-III (AT-III) activity
    BIOCHEMICAL

. A possible mechanism is as follows: Exogenous stimuli

    activate plasma proteinase systems
    BIOCHEMICAL

 with the

    generation of plasma kallikrein that activates the tissue factor pathway (TF)
    BIOCHEMICAL

 and

    liberates bradykinin (BK)
    BIOCHEMICAL

. In

    younger
    AGE

 patients,

    BK enhances vascular permeability
    BIOCHEMICAL

. In the

    elderly
    AGE

,

    activated TF is controlled by tissue factor pathway inhibitor (TFPI)
    BIOCHEMICAL

 and generates

    thrombin
    BIOCHEMICAL

, which is the

    target enzyme of AT-III
    BIOCHEMICAL

 and precipitates

    DIC
    SYMPTOMS

 or

    MOF
    SYMPTOMS

. In

    elderly
    AGE

 patients, the characteristic symptom of

    HANE
    DIAGNOSIS

 is

    hypercoagulation
    BIOCHEMICAL

 by age-related

    changes in the biosynthesis of AT-III or TFPI
    BIOCHEMICAL

.

hereditary angioneurotic edema (HANE)
HANE
HANE
HANE


[Abdominal pain and ascites as manifestations of hereditary angioneurotic edema].

Hereditary angioneurotic edema (HAE) is an infrequent autosomal dominant disorder characterized by a decrease in the levels or a dysfunction of the complement C1 inhibitor factor (C1 inh). The clinical presentation varies widely and involves any area of the organism. Gastrointestinal involvement is usually as abdominal pain and may be accompanied by ascites. De novo diagnosis of HAE with abdominal pain and ascites as a form of presentation is difficult with differential diagnosis with abdominal pain of unknown origin. The appearance of ascites is rare with few cases reported in the literature. Both abdominal pain and ascites disappear a few days after initiation of medical treatment. Occasionally exploratory laparotomy has been required. A new case of abdominal pain and ascites as manifestations of HAE is herein reported.

    Hereditary angioneurotic edema (HAE)
    DIAGNOSIS

 is an

    infrequent autosomal dominant disorder
    GENETICS

 characterized by a

    decrease in the levels or a dysfunction of the complement C1 inhibitor factor (C1 inh)
    BIOCHEMICAL

. The clinical presentation varies widely and involves any area of the organism.

    Gastrointestinal involvement
    SYMPTOMS

 is usually as

    abdominal pain
    SYMPTOMS

 and may be accompanied by

    ascites
    SYMPTOMS

. De novo diagnosis of

    HAE
    DIAGNOSIS

 with

    abdominal pain
    SYMPTOMS

 and

    ascites
    SYMPTOMS

 as a form of presentation is difficult with

    differential diagnosis
    PARACLINICAL

 with

    abdominal pain of unknown origin
    SYMPTOMS

. The appearance of

    ascites
    SYMPTOMS

 is rare with few cases reported in the literature. Both

    abdominal pain
    SYMPTOMS

 and

    ascites
    SYMPTOMS

 disappear a few days after

    initiation of medical treatment
    MEDICATION

. Occasionally

    exploratory laparotomy
    MEDICATION

 has been required. A new case of

    abdominal pain
    SYMPTOMS

 and

    ascites
    SYMPTOMS

 as manifestations of

    HAE
    DIAGNOSIS

 is herein reported.

Hereditary angioneurotic edema (HAE)
HAE
HAE

Gastrointestinal involvement
abdominal pain
ascites
abdominal pain
ascites
abdominal pain of unknown origin
ascites
abdominal pain
ascites
abdominal pain
ascites

initiation of medical treatment
exploratory laparotomy


[Simultaneous occurrence of hereditary angioneurotic edema and Crohn disease].

Hereditary C1 esterase inhibitor deficiency is often associated with immunpathologic disorders. The authors present a case of the rare coincidence of hereditary angioedema (HAE) and Crohn's disease. The history of the patient is analysed along with the familial occurrence of the disease. Characteristic abdominal manifestations of C1 esterase inhibitor deficiency are compared to the clinical signs of Crohn's disease. Differential diagnostic pitfalls are described along with efficatious therapeutic options.

    Hereditary C1 esterase inhibitor deficiency
    BIOCHEMICAL

 is often associated with

    immunpathologic disorders
    DIAGNOSIS

. The authors present a case of the

    rare coincidence of hereditary angioedema (HAE) and Crohn's disease
    DIAGNOSIS

. The history of the patient is analysed along with the

    familial occurrence of the disease
    FAMILY

.

    Characteristic abdominal manifestations
    SYMPTOMS

 of

    C1 esterase inhibitor deficiency
    BIOCHEMICAL

 are compared to the

    clinical signs of Crohn's disease
    SYMPTOMS

. Differential diagnostic pitfalls are described along with efficatious therapeutic options.

Characteristic abdominal manifestations
clinical signs of Crohn's disease


A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema.

We studied the molecular genetic basis of a C1 inhibitor deficiency in a patient with type I hereditary angioneurotic edema using both the polymerase chain reaction and nucleotide sequencing. A single nucleotide change (T-->A) at the GT 5' donor splice recognition motif in the seventh intron of the C1 inhibitor gene was detected. A restriction site analysis of the C1 inhibitor gene in the patient's family indicated that this mutation is correlated with a decreased level of C1 inhibitor activity. A northern blot analysis demonstrated C1 inhibitor mRNA to have a normal size, but its contents were reduced by about 50% compared with a normal subject. As the donor splice site is essential for an excising of the intron during mRNA processing, aberrant mRNA splicing may cause a rapid degradation of the transcript, thus resulting in the onset of hereditary angioneurotic edema.

We studied the molecular genetic basis of a

    C1 inhibitor deficiency
    BIOCHEMICAL

 in a patient with

    type I hereditary angioneurotic edema
    DIAGNOSIS

 using both the

    polymerase chain reaction
    PARACLINICAL

 and

    nucleotide sequencing
    PARACLINICAL

. A

    single nucleotide change (T-->A) at the GT 5' donor splice recognition motif in the seventh intron of the C1 inhibitor gene
    GENETICS

 was detected. A

    restriction site analysis of the C1 inhibitor gene in the patient's family
    PARACLINICAL

 indicated that this mutation is correlated with a

    decreased level of C1 inhibitor activity
    BIOCHEMICAL

. A

    northern blot analysis
    PARACLINICAL

 demonstrated

    C1 inhibitor mRNA
    BIOCHEMICAL

 to have a normal size, but

    its contents were reduced by about 50% compared
    BIOCHEMICAL

 with a normal subject. As the

    donor splice site is essential for an excising of the intron during mRNA processing
    GENETICS

,

    aberrant mRNA splicing
    GENETICS

 may cause a

    rapid degradation of the transcript
    BIOCHEMICAL

, thus resulting in the onset of

    hereditary angioneurotic edema
    SYMPTOMS

.


Acquired angio-oedema caused by IgA paraprotein.

The syndrome of acquired angio-oedema is characterized by late onset of recurrent bouts of angio-oedema or abdominal pain and may be caused by an acquired deficiency of C1-inhibitor (C1-INH), the inhibitor of the first component of complement. Acquired C1-INH deficiency has been described in approximately 50 patients and is strongly associated with malignant B-cell proliferations. We describe a patient with an 8-year history of recurrent abdominal symptoms and angio-oedema with acquired C1-INH deficiency, caused by the presence of IgA-kappa antibodies that inactivate C1-INH. Analysis of the bone marrow revealed an IgA-kappa monoclonal population of plasma cells, without evidence of overt myeloma. Angio-oedema caused by an autoantibody of the IgA isotype is extremely rare and has never been described in a Dutch patient. Recognition of angio-oedema, both hereditary and acquired, is important because of the therapeutic consequences, as will be discussed.

The syndrome of

    acquired angio-oedema
    DIAGNOSIS

 is characterized by

    late onset of recurrent bouts of angio-oedema
    SYMPTOMS

 or

    abdominal pain
    SYMPTOMS

 and may be caused by an

    acquired deficiency of C1-inhibitor (C1-INH), the inhibitor of the first component of complement
    BIOCHEMICAL

.

    Acquired C1-INH deficiency
    BIOCHEMICAL

 has been described in approximately 50 patients and is strongly associated with

    malignant B-cell proliferations
    MICROSCOPIC

. We describe a patient with an 8-year history of

    recurrent abdominal symptoms
    SYMPTOMS

 and

    angio-oedema
    SYMPTOMS

 with

    acquired C1-INH deficiency
    BIOCHEMICAL

, caused by the

    presence of IgA-kappa antibodies that inactivate C1-INH
    BIOCHEMICAL

.

    Analysis of the bone marrow
    PARACLINICAL

 revealed an

    IgA-kappa monoclonal population of plasma cells
    MICROSCOPIC

,

    without evidence of overt myeloma
    NEG_FINDINGS

.

    Angio-oedema
    DIAGNOSIS

 caused by an

    autoantibody of the IgA isotype
    BIOCHEMICAL

 is extremely rare and has never been described in a

    Dutch
    ETHNICITY

 patient. Recognition of

    angio-oedema
    DIAGNOSIS

, both hereditary and acquired, is important because of the therapeutic consequences, as will be discussed.

acquired angio-oedema
Angio-oedema
angio-oedema


Hereditary angioedema. Complex symptoms can make diagnosis difficult.

Although rare, hereditary angioedema is a potentially life-threatening disorder that can be difficult to diagnose. It is characterized by a deficiency in C1 esterase inhibitor (C1 INH). Manifestations include gastrointestinal, subcutaneous, and respiratory edema. Factors that trigger episodes vary. Symptoms typically last 48 to 72 hours, but they can last 4 hours to 1 week. Treatment includes prophylactic therapy with attenuated androgens or antifibrinolytic agents. Acute episodes can be medical emergencies, and airway management is a major concern. The treatment of choice in an acute episode is administration of plasma concentrate of C1 INH.

Although rare,

    hereditary angioedema
    DIAGNOSIS

 is a potentially life-threatening disorder that can be difficult to diagnose. It is characterized by a

    deficiency in C1 esterase inhibitor (C1 INH)
    BIOCHEMICAL

. Manifestations include

    gastrointestinal, subcutaneous, and respiratory edema
    SYMPTOMS

. Factors that trigger episodes vary. Symptoms typically last 48 to 72 hours, but they can last 4 hours to 1 week. Treatment includes

    prophylactic therapy with attenuated androgens or antifibrinolytic agents
    MEDICATION

.

    Acute episodes
    SYMPTOMS

 can be medical emergencies, and

    airway management
    MEDICATION

 is a major concern. The treatment of choice in an acute episode is

    administration of plasma concentrate of C1 INH.
    MEDICATION


Coexistence of hereditary angioedema and Turner's syndrome.

A 34-year-old woman presented to the out-patient clinic with angioedema and type II hereditary angioedema was confirmed immunologically. She also volunteered she had never had a menstrual period and physical examination identified several features of Turner's syndrome. A mosaic karyotype with XY and XO was found on chromosomal analysis and gonadectomy was performed in view of the high risk of gonadoblastoma. After commencing oestrogen at physiological replacement doses, the patient experienced a marked deterioration in both the severity and frequency of angioedema attacks. Coexistence of hereditary angioedema and Turner's syndrome has not previously been reported and this case highlights the detrimental C1 inhibitor level lowering effect of oestrogen in hereditary angioedema.

A

    34-year-old
    AGE

    woman
    GENDER

 presented to the out-patient clinic with

    angioedema
    SYMPTOMS

 and

    type II hereditary angioedema
    DIAGNOSIS

 was confirmed

    immunologically
    PARACLINICAL

.

    She
    GENDER

 also volunteered

    she
    GENDER

 had

    never had a menstrual period
    NEG_FINDINGS

 and

    physical examination
    PARACLINICAL

 identified

    several features of Turner's syndrome
    SYMPTOMS

. A

    mosaic karyotype with XY and XO
    GENETICS

 was found on

    chromosomal analysis
    PARACLINICAL

 and

    gonadectomy
    MEDICATION

 was performed in view of the high risk of

    gonadoblastoma
    DIAGNOSIS

. After

    commencing oestrogen at physiological replacement doses
    MEDICATION

, the patient experienced a

    marked deterioration in both the severity and frequency of angioedema attacks
    SYMPTOMS

.

    Coexistence of hereditary angioedema and Turner's syndrome
    DIAGNOSIS

 has not previously been reported and this case highlights the

    detrimental C1 inhibitor level lowering effect of oestrogen
    BIOCHEMICAL

 in

    hereditary angioedema
    DIAGNOSIS

.


Hereditary angioedema: an unusual case in an African-American woman.

Hereditary angioedema is a rare disorder characterized by a localized subepithelial edema and swelling of the gastrointestinal and upper respiratory tract. The disorder is estimated to occur in 1 in 50,000 to 150,000 individuals. However, the prevalence of the disorder among the African-American population is uncertain. This is a case report of hereditary angioedema occurring in an African-American woman whose symptoms persisted for more than a decade prior to diagnosis.

    Hereditary angioedema
    DIAGNOSIS

 is a rare disorder characterized by a

    localized subepithelial edema
    SYMPTOMS

 and

    swelling of the gastrointestinal and upper respiratory tract
    SYMPTOMS

. The disorder is estimated to occur in 1 in 50,000 to 150,000 individuals. However, the prevalence of the disorder among the

    African-American
    ETHNICITY

 population is uncertain. This is a case report of

    hereditary angioedema
    DIAGNOSIS

 occurring in an

    African-American
    ETHNICITY

    woman
    GENDER

 whose

    symptoms persisted for more than a decade
    SYMPTOMS

 prior to diagnosis.

Hereditary angioedema
hereditary angioedema


[Digestive manifestations of hereditary angioneurotic edema. Apropos of a case].

We present a case of hereditary angioedema with cutaneous and intestinal manifestations mimicking a small bowel tumor on computed tomography, and in which unnecessary surgery was avoided by follow-up computed tomography. We discuss the pathophysiology, clinical and radiological manifestations of the disease, as well as its computed tomographic appearance.

We present a case of

    hereditary angioedema
    DIAGNOSIS

 with

    cutaneous and intestinal manifestations mimicking a small bowel tumor
    SYMPTOMS

 on

    computed tomography
    PARACLINICAL

, and in which

    unnecessary surgery was avoided
    NEG_FINDINGS

 by

    follow-up computed tomography
    PARACLINICAL

. We discuss the pathophysiology, clinical and radiological manifestations of the disease, as well as its computed tomographic appearance.


[Ascites and suspected acute abdomen in hereditary angioedema due to C1 inhibitor deficiency].

A 35-year-old man, for 8 years known to have hereditary angio-oedema with recurrent cutaneous swellings and occasional attacks of gastrointestinal pain, developed very painful, colic-like upper abdominal symptoms and frequent vomiting.

Routine laboratory tests were normal, except for leucocytosis of 18,200 WBC/microliter. The plasma concentrations of C1-esterase inhibitor (5.6 mg/dl) and of complement factor C4 (10.0 mg/dl) were reduced. Computed tomography revealed about 500 ml free fluid, a perihepatic effusion and definite oedematous thickening of the ileal wall.

During conservative treatment with infusions and no food by mouth the symptoms regressed. Abdominal ultrasonography was normal (no free intraabdominal fluid). Since discharge (now more than 15 months ago) the patient has been on danazole medication (200 mg/d).

Recurrent gastrointestinal colics are typical of for hereditary angio-oedema and can imitate an acute abdomen. Concurrent ascites has only recently been described. Appropriate instruction of the patient and his/her medical practitioner is important to avoid unnecessary laparotomy.

A

    35-year-old
    AGE

    man
    GENDER

, for 8 years known to have

    hereditary angio-oedema
    SYMPTOMS

 with

    recurrent cutaneous swellings
    SYMPTOMS

 and

    occasional attacks of gastrointestinal pain
    SYMPTOMS

, developed

    very painful, colic-like upper abdominal symptoms
    SYMPTOMS

 and

    frequent vomiting
    SYMPTOMS

.

    Routine laboratory tests were normal
    NEG_FINDINGS

, except for

    leucocytosis of 18,200 WBC/microliter
    BIOCHEMICAL

.

    The plasma concentrations of C1-esterase inhibitor (5.6 mg/dl) and of complement factor C4 (10.0 mg/dl) were reduced
    BIOCHEMICAL

.

    Computed tomography
    PARACLINICAL

 revealed

    about 500 ml free fluid
    SYMPTOMS

, a

    perihepatic effusion
    SYMPTOMS

 and

    definite oedematous thickening of the ileal wall
    SYMPTOMS

.

During

    conservative treatment with infusions and no food by mouth
    MEDICATION

 the

    symptoms regressed
    SYMPTOMS

.

    Abdominal ultrasonography was normal (no free intraabdominal fluid)
    NEG_FINDINGS

. Since discharge (now more than 15 months ago) the patient has been

    on danazole medication (200 mg/d)
    MEDICATION

.

    Recurrent gastrointestinal colics
    SYMPTOMS

 are typical of for

    hereditary angio-oedema
    DIAGNOSIS

 and can imitate an

    acute abdomen
    SYMPTOMS

.

    Concurrent ascites
    SYMPTOMS

 has only recently been described. Appropriate instruction of the patient and his/her medical practitioner is important to avoid

    unnecessary laparotomy
    MEDICATION

.


[Hereditary angioneuritoc edema with exclusive abdominal manifestation. Report of a case].

A new case of C1 inhibitor deficiency is described, pointing out the relationship between laboratory and radiological findings (increase haemoglobin and hematocrit index, and BUN) and presence of free intraperitoneal fluid (ultrasonography and radiology). In patients with this rate condition undergoing laparotomy because acute appendicitis or other surgical condition suspected, the evidence of massive intraperitoneal effusion should indicate the possibility of C1 inhibitor deficiency.

A new case of

    C1 inhibitor deficiency
    BIOCHEMICAL

 is described, pointing out the relationship between

    laboratory and radiological
    PARACLINICAL

 findings (

    increase haemoglobin and hematocrit index, and BUN)
    BIOCHEMICAL

 and

    presence of free intraperitoneal fluid
    SYMPTOMS

 (

    ultrasonography and radiology)
    PARACLINICAL

. In patients with this rate condition undergoing

    laparotomy
    MEDICATION

 because

    acute appendicitis
    DIAGNOSIS

 or other surgical condition suspected, the evidence of

    massive intraperitoneal effusion
    SYMPTOMS

 should indicate the possibility of

    C1 inhibitor deficiency
    BIOCHEMICAL

.

presence of free intraperitoneal fluid
massive intraperitoneal effusion


Association of Sjögren's syndrome with hereditary angioneurotic edema: report of a case.

A case of hereditary angioneurotic edema (HANE) associated with Sjögren's syndrome is presented. One of the members of a pedigree of HANE due to deficiency of C1 inhibitor (C1INH) had a positive titer for anti-SS-A and anti-SS-B antibodies in the serum, complaining of symptom of dry eyes and dry mouth. A lip biopsy revealed lymphocytic infiltration of minor salivary glands. The patient had renal tubular acidosis (RTA). Thus the patient was diagnosed as suffering from Sjögren's syndrome with RTA.

A case of

    hereditary angioneurotic edema (HANE) associated with Sjögren's syndrome
    DIAGNOSIS

 is presented. One of the members of a

    pedigree of HANE
    FAMILY

 due to

    deficiency of C1 inhibitor (C1INH)
    BIOCHEMICAL

 had a

    positive titer for anti-SS-A and anti-SS-B antibodies in the serum
    BIOCHEMICAL

, complaining of

    symptom of dry eyes
    SYMPTOMS

 and

    dry mouth
    SYMPTOMS

. A

    lip biopsy
    PARACLINICAL

 revealed

    lymphocytic infiltration of minor salivary glands
    MICROSCOPIC

. The patient had

    renal tubular acidosis (RTA)
    DIAGNOSIS

. Thus the patient was diagnosed as suffering from

    Sjögren's syndrome with RTA
    DIAGNOSIS

.


Association of hereditary angioedema and hereditary breast cancer.

A family is presented in whom hereditary angioedema (HAE) and hereditary breast cancer were coexistent, an association not previously reported. A potential for genetic and treatment-related interactions between the two conditions exists. The use of the hormonal agent danazol to suppress HAE is unlikely to adversely affect the development or outcome of breast cancer. Surgery, chemotherapy, and radiotherapy were received by affected family members, without triggering edema. Whether hormonal breast cancer treatment affects the suppression of HAE by danazol remains unknown.

A family is presented in whom

    hereditary angioedema (HAE) and hereditary breast cancer were coexistent
    DIAGNOSIS

, an association not previously reported. A potential for genetic and treatment-related interactions between the two conditions exists. The

    use of the hormonal agent danazol to suppress HAE
    MEDICATION

 is unlikely to adversely affect the development or outcome of

    breast cancer
    NEG_FINDINGS

.

    Surgery, chemotherapy, and radiotherapy
    MEDICATION

 were received by affected family members,

    without triggering edema
    NEG_FINDINGS

. Whether

    hormonal breast cancer treatment
    MEDICATION

 affects the

    suppression of HAE
    BIOCHEMICAL

 by

    danazol
    MEDICATION

 remains unknown.


[Melkersson-Rosenthal syndrome. Presentation of a clinical case and review of the literature].

Melkersson-Rosenthal syndrome is a rare form of hereditary angioedema characterised by a triad of symptoms of which incomplete (oligo- or monosymptomatic) forms have been described, frequently associated with dysreactive diseases or neoplasia. The authors describe the case of a 48-year-old man with an incomplete form which was successfully treated with steroids and, after a careful and detailed revision of the literature on the subject, they make a number of etiopathogenetic, histopathological, clinical and therapeutic comments.

    Melkersson-Rosenthal syndrome
    DIAGNOSIS

 is a rare form of

    hereditary angioedema
    DIAGNOSIS

 characterised by a

    triad of symptoms
    SYMPTOMS

 of which

    incomplete (oligo- or monosymptomatic) forms
    SYMPTOMS

 have been described, frequently associated with

    dysreactive diseases
    DIAGNOSIS

 or

    neoplasia
    SYMPTOMS

. The authors describe the case of a

    48-year-old
    AGE

    man
    GENDER

 with an

    incomplete form
    SYMPTOMS

 which was successfully treated with

    steroids
    MEDICATION

 and, after a careful and detailed revision of the literature on the subject, they make a number of etiopathogenetic, histopathological, clinical and therapeutic comments.

Melkersson-Rosenthal syndrome
hereditary angioedema
dysreactive diseases


Hereditary angioedema: case report and review of management.

The classification, pathophysiology, and treatment of angioedema is reviewed. An overview of acquired and hereditary angioedema is presented with an interesting case report that illustrates the importance of recognition and perioperative management of hereditary angioedema to prevent a potentially fatal outcome.

The classification, pathophysiology, and treatment of

    angioedema
    DIAGNOSIS

 is reviewed. An overview of

    acquired
    DIAGNOSIS

 and

    hereditary angioedema
    DIAGNOSIS

 is presented with an interesting case report that illustrates the importance of recognition and

    perioperative management
    MEDICATION

 of

    hereditary angioedema
    DIAGNOSIS

 to prevent a potentially fatal outcome.

angioedema
acquired
hereditary angioedema
hereditary angioedema