[Reticular erythema signalling the onset of episodes of hereditary angioedema in a child].

Hereditary angioedema is characterized by episodes of subcutaneous, digestive or laryngeal edema. In some cases, non-pruritic reticular erythema may precede the episodes of edema.

Every 4 to 6 weeks since infancy, a girl presented non-pruritic widespread reticular erythema, sparing the face. Two or three times every year, abdominal pain or edema of the lower limb joints followed the skin eruption. At 12 years of age, she was hospitalized because of an edema of the face associated with the eruption. Exploration of the complement confirmed the diagnosis of type I hereditary angioedema.

The mean delay before diagnosis of hereditary angioedema is of 7 years. Reticular erythema in hereditary angioedema is frequent (40p. 100 of cases) and it usually occurs early in childhood, even in the absence of any episode of angioedema. When present, these eruptions usually precede an episode of angioedema. Recognition of this eruption as a symptom of hereditary angioedema would shorten the delay before diagnosis and anticipate appropriate management of the episodes.

    Hereditary angioedema
    DIAGNOSIS

 is characterized by

    episodes of subcutaneous, digestive or laryngeal edema
    SYMPTOMS

. In some cases,

    non-pruritic reticular erythema
    SYMPTOMS

 may precede the

    episodes of edema
    SYMPTOMS

.

    Every 4 to 6 weeks
    AGE

 since

    infancy
    AGE

, a

    girl
    GENDER

 presented

    non-pruritic widespread reticular erythema, sparing the face
    SYMPTOMS

. Two or three times every year,

    abdominal pain
    SYMPTOMS

 or

    edema of the lower limb joints
    SYMPTOMS

 followed the

    skin eruption
    SYMPTOMS

. At

    12 years of age
    AGE

,

    she
    GENDER

 was hospitalized because of an

    edema of the face associated with the eruption
    SYMPTOMS

.

    Exploration of the complement
    PARACLINICAL

 confirmed the diagnosis of

    type I hereditary angioedema
    DIAGNOSIS

.

The mean delay before diagnosis of

    hereditary angioedema
    DIAGNOSIS

 is of

    7 years
    AGE

.

    Reticular erythema
    SYMPTOMS

 in

    hereditary angioedema
    DIAGNOSIS

 is frequent (40p. 100 of cases) and it usually occurs

    early in childhood
    AGE

, even in the

    absence of any episode of angioedema
    NEG_FINDINGS

. When present, these

    eruptions
    SYMPTOMS

 usually precede an episode of

    angioedema
    SYMPTOMS

. Recognition of this

    eruption
    SYMPTOMS

 as a symptom of

    hereditary angioedema
    DIAGNOSIS

 would shorten the delay before diagnosis and anticipate appropriate management of the episodes.

Hereditary angioedema
type I hereditary angioedema
hereditary angioedema
hereditary angioedema
hereditary angioedema


Non-rheumatoid erosive arthritis associated with type I hereditary angioedema.

Hereditary angioedema (HAE) is an autosomal dominant disease that causes recurrent attacks of non-pitting edema of soft tissues, without pruritus. This disorder can also affect internal organs. The cause of HAE consists in quantitative or qualitative defective production of C1 inhibitor (C1-INH). Many autoimmune diseases such as systemic lupus erythematosus (SLE) (or SLE-like syndromes), Sjögren's syndrome, scleroderma, thyroiditis, glomerulonephritis, and inflammatory bowel disease have been described in patients suffering from HAE. A concomitance with pure arthritis was previously reported only in two adult patients. Here, we describe for the first time the association between HAE and a non-rheumatoid erosive oligoarthritis involving hips and wrists.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is an

    autosomal dominant disease
    GENETICS

 that causes

    recurrent attacks of non-pitting edema of soft tissues
    SYMPTOMS

,

    without pruritus
    NEG_FINDINGS

. This disorder can also affect

    internal organs
    SYMPTOMS

. The cause of

    HAE
    DIAGNOSIS

 consists in

    quantitative or qualitative defective production of C1 inhibitor (C1-INH)
    BIOCHEMICAL

. Many

    autoimmune diseases
    DIAGNOSIS

 such as

    systemic lupus erythematosus (SLE) (or SLE-like syndromes)
    DIAGNOSIS

,

    Sjögren's syndrome
    DIAGNOSIS

,

    scleroderma
    DIAGNOSIS

,

    thyroiditis
    DIAGNOSIS

,

    glomerulonephritis
    DIAGNOSIS

, and

    inflammatory bowel disease
    DIAGNOSIS

 have been described in patients suffering from

    HAE
    DIAGNOSIS

. A concomitance with

    pure arthritis
    DIAGNOSIS

 was previously reported only in two

    adult
    AGE

 patients. Here, we describe for the first time the

    association between HAE
    DIAGNOSIS

 and a

    non-rheumatoid erosive oligoarthritis involving hips and wrists
    DIAGNOSIS

.


[Hereditary angioneurotic edema: a case report in a 3-year-old child].

Hereditary angioneurotic edema is a dominant autosomal disease (incidence 1/150,000), whose diagnosis is crucial as this condition can lead to fatal asphyxia within minutes. We report the case of a three-year-old girl, misdiagnosed as allergic asthma. Recognition of the syndrome led to adapted care restoring normal family and school life. Pathogenic cascades involved and therapeutic principles of this disease are reviewed.

    Hereditary angioneurotic edema
    DIAGNOSIS

 is a

    dominant autosomal disease
    GENETICS

 (incidence 1/150,000), whose diagnosis is crucial as this condition can lead to

    fatal asphyxia
    SYMPTOMS

 within minutes. We report the case of a

    three-year-old
    AGE

    girl
    GENDER

,

    misdiagnosed as allergic asthma
    NEG_FINDINGS

. Recognition of the syndrome led to

    adapted care restoring normal family and school life
    MEDICATION

. Pathogenic cascades involved and therapeutic principles of this disease are reviewed.


Idiopatic angioedema treated with dapsone.

The most commonly identified causes of angioedema are medications, allergens and physical agents, but most cases of angioedema are idiopathic. Treatment depends on identification of the causative agent and, especially when the mechanism is not identified, on the clinicians knowledge and experience with innovative therapeutic regimens.

A 48-year-old man presented with a 3-month history of recurrent severe episodes of angioedema affecting the lips, tongue and throat. A fiberoptic examination revealed laryngeal edema during some episodes. He did not report abdominal pain, nausea or vomiting. No precipitating factors were identified. The patient was not receiving angiotensin-converting enzyme inhibitors. For the previous 4 years, the patient had been receiving levothyroxine for autoimmune thyroiditis. There was no history of facial palsy or hereditary angioedema.

Skin prick test with aeroallergens, food, latex, Anisakis and patch test to a standard series (true test) were negative. Laboratory investigations revealed normal complete blood count (CBC), erythrocyte sedimentation rate, urinalysis, blood biochemistry, serum protein electrophoresis and serum immunoglobulins. IgE concentration was 30 UI/ml. Antiperoxidase antibodies were positive (535 UI/ml). Antinuclear antibodies serum immune complexes and rheumatoid factor were negative. Complement study during acute and asymptomatic periods revealed normal values of C1 esterase inhibitor, C1q, C3, C4, functional activity of C1 inhibitor and CH50. No pathologic findings were observed in a lip biopsy. The patient was treated with sedating and nonsedating H1 antihistamines and corticosteroids (prednisone 30 mg/day for 3 months) with no clinical improvement and treatment with 50 mg of dapsone daily was started. Glucose 6 phosphate dehydrogenase deficiency had previously been ruled out. The patient improved and antihistamine and corticoid treatment was withdrawn 1 month after starting the dapsone regimen. No episodes of angioedema appeared during the subsequent year. No reductions in hematologic parameters or adverse events were detected. Dapsone may be an alternative drug in extreme cases of idiopathic angioedema in patients with poor response to conventional therapy.

The most commonly identified causes of

    angioedema
    DIAGNOSIS

 are

    medications
    MEDICATION

,

    allergens
    SYMPTOMS

 and

    physical agents
    SYMPTOMS

, but most cases of

    angioedema
    DIAGNOSIS

 are

    idiopathic
    NEG_FINDINGS

. Treatment depends on identification of the causative agent and, especially when the mechanism is not identified, on the clinicians knowledge and experience with innovative therapeutic regimens.

A

    48-year-old
    AGE

    man
    GENDER

 presented with a

    3-month history of recurrent severe episodes of angioedema affecting the lips, tongue and throat
    SYMPTOMS

. A

    fiberoptic examination
    PARACLINICAL

 revealed

    laryngeal edema during some episodes
    SYMPTOMS

.

    He
    GENDER

    did not report abdominal pain
    NEG_FINDINGS

,

    nausea or vomiting
    NEG_FINDINGS

.

    No precipitating factors were identified
    NEG_FINDINGS

. The patient was

    not receiving angiotensin-converting enzyme inhibitors
    NEG_FINDINGS

.

    For the previous 4 years
    MEDICATION

, the patient

    had been receiving levothyroxine for autoimmune thyroiditis
    MEDICATION

. There was

    no history of facial palsy or hereditary angioedema
    NEG_FINDINGS

.

    Skin prick test with aeroallergens, food, latex, Anisakis and patch test to a standard series (true test) were negative
    NEG_FINDINGS

.

    Laboratory investigations
    PARACLINICAL

 revealed

    normal complete blood count (CBC), erythrocyte sedimentation rate, urinalysis, blood biochemistry, serum protein electrophoresis
    NEG_FINDINGS

 and

    serum immunoglobulins
    BIOCHEMICAL

.

    IgE concentration was 30 UI/ml
    BIOCHEMICAL

.

    Antiperoxidase antibodies were positive (535 UI/ml)
    BIOCHEMICAL

.

    Antinuclear antibodies serum immune complexes and rheumatoid factor were negative
    NEG_FINDINGS

.

    Complement study during acute and asymptomatic periods
    PARACLINICAL

 revealed

    normal values of C1 esterase inhibitor, C1q, C3, C4, functional activity of C1 inhibitor and CH50
    NEG_FINDINGS

.

    No pathologic findings were observed in a lip biopsy
    NEG_FINDINGS

. The patient was

    treated with sedating and nonsedating H1 antihistamines and corticosteroids (prednisone 30 mg/day for 3 months)
    MEDICATION

 with

    no clinical improvement
    NEG_FINDINGS

 and

    treatment with 50 mg of dapsone daily
    MEDICATION

 was started.

    Glucose 6 phosphate dehydrogenase deficiency had previously been ruled out
    NEG_FINDINGS

. The patient improved and

    antihistamine and corticoid treatment was withdrawn 1 month after starting the dapsone regimen
    MEDICATION

.

    No episodes of angioedema appeared
    NEG_FINDINGS

 during the subsequent year.

    No reductions in hematologic parameters or adverse events were detected
    NEG_FINDINGS

.

    Dapsone
    MEDICATION

 may be an alternative drug in extreme cases of

    idiopathic angioedema
    DIAGNOSIS

 in patients with

    poor response to conventional therapy
    NEG_FINDINGS

.

angioedema
angioedema
idiopathic angioedema


[Angioedema in hereditary deficiency of complement factor 1 esterase inhibitor and alpha 1-antitrypsin].

A 15-year-old girl had suffered from episodic, sometimes threatening angioedema of the face, nasopharyngeal space and distal extremities beginning at age 13.

A C1-esterase inhibitor (C1-INH) deficiency was revealed protein-chemically and functionally. There was also an alpha (1)-antitrypsin (AAT) deficiency with heterocygotic phenotype PiMZ. The combination of C1-INH and AAT deficiency was also found in the patient's mother and brother.

Under 8-month therapy with 200 mg/d danazol per os (reduction of the dosis in the last month to 100 mg/d), there was no further edema, the C1-INH concentration normalized and there was also an increase in C1-INH function. During the observation period, use of the emergency set with C1-INH concentrate was not required.

This is the first reported case of angioedema in combination of two hereditary enzyme defects C1-INH deficiency (autosomal-dominant genetics) and AAT deficiency (autosomal-recessive). In addition to a survey of current literature, the current state of diagnostics and therapy of the hereditary angioedema is presented.

A

    15-year-old
    AGE

    girl
    GENDER

 had suffered from

    episodic, sometimes threatening angioedema of the face, nasopharyngeal space and distal extremities
    SYMPTOMS

 beginning at

    age 13
    AGE

.

A

    C1-esterase inhibitor (C1-INH) deficiency
    BIOCHEMICAL

 was revealed

    protein-chemically and
    PARACLINICAL

 functionally. There was also an

    alpha (1)-antitrypsin (AAT) deficiency
    BIOCHEMICAL

    with heterocygotic phenotype PiMZ
    FAMILY

. The

    combination of C1-INH and AAT deficiency
    BIOCHEMICAL

    was also found in the patient's mother and brother
    FAMILY

.

    Under 8-month therapy with 200 mg/d danazol per os (reduction of the dosis in the last month to 100 mg/d)
    MEDICATION

, there was

    no further edema
    NEG_FINDINGS

,

    the C1-INH concentration normalized
    BIOCHEMICAL

 and there was also an

    increase in C1-INH function
    BIOCHEMICAL

. During the observation period,

    use of the emergency set with C1-INH concentrate was not required
    MEDICATION

.

This is the first reported case of

    angioedema
    DIAGNOSIS

 in combination of

    two hereditary enzyme defects C1-INH deficiency (autosomal-dominant genetics)
    GENETICS

 and

    AAT deficiency
    BIOCHEMICAL

    (autosomal-recessive)
    GENETICS

. In addition to a survey of current literature, the current state of diagnostics and therapy of the

    hereditary angioedema
    DIAGNOSIS

 is presented.


Hereditary angioedema presenting as epiglottitis.

Hereditary angioedema is a disorder characterized by decreased levels or function of complement C1 esterase inhibitor. Symptoms in children generally consist of recurrent episodes of soft tissue swelling. On rare occasion, it can cause airway edema which may lead to airway obstruction. A case is presented of a child presenting with epiglottitis requiring intubation. Initial management of this rare complication should be directed at establishing an adequate airway and ensuring good oxygenation and ventilation. In addition, prompt administration of C1 esterase inhibitor concentrate is the most effective means of stopping progression of laryngeal edema and other forms of swelling. Commonly used agents for airway edema such as glucocorticoids, antihistamines, H1-blockers, and epinephrine tend not to be effective for reducing swelling related to hereditary angioedema.

    Hereditary angioedema
    DIAGNOSIS

 is a disorder characterized by

    decreased levels or function of complement C1 esterase inhibitor
    BIOCHEMICAL

. Symptoms in

    children
    AGE

 generally consist of

    recurrent episodes of soft tissue swelling
    SYMPTOMS

. On rare occasion, it can cause

    airway edema
    SYMPTOMS

 which may lead to

    airway obstruction
    SYMPTOMS

. A case is presented of a

    child
    AGE

 presenting with

    epiglottitis
    SYMPTOMS

 requiring

    intubation
    MEDICATION

. Initial management of this rare complication should be directed at

    establishing an adequate airway
    MEDICATION

 and ensuring

    good oxygenation and ventilation
    MEDICATION

. In addition,

    prompt administration of C1 esterase inhibitor concentrate
    MEDICATION

 is the most effective means of

    stopping progression of laryngeal edema and other forms of swelling
    SYMPTOMS

. Commonly used agents for

    airway edema
    SYMPTOMS

    such as glucocorticoids, antihistamines, H1-blockers
    MEDICATION

, and

    epinephrine
    MEDICATION

    tend not to be effective for reducing swelling
    NEG_FINDINGS

 related to

    hereditary angioedema
    DIAGNOSIS

.

Hereditary angioedema
hereditary angioedema


[Therapeutic approach of hereditary angioedema].

Hereditary Angioedema was first described by William Osler in 1888 and it is caused by a hereditary or acquired deficiency of C1 esterase inhibitor (C1-INH). Treatment is indicated for acute attacks or prophylaxis of angioedema which occur in the subcutaneous tissue respiratory or gastrointestinal tracts. Treatment includes attenuated androgens, inhibitors of kininogen or plasminogen, like tranexamic acid or e-aminocaproic acid and the administration of C1-INH concentrate. We describe the peculiarities of the treatment chosen for 10 patients (4 families) with HAE and their evolution.

Ten patients (1-38 years old) with HAE were diagnosed by clinical history and laboratory evaluation. The following tests were performed for the complement system: C1-INH, C4 and C3 levels and hemolytic assay (CH50 and APH50) for the classic and alternative pathways. Treatment was initiated considering severity of symptoms, age, gender and therapeutic response of the patient.

Clinical evaluation showed: 4/10 patients with recurrent subcutaneous edema; 3/10 with previous laryngeal edema and 3/10 with sporadic symptoms. Different severity of symptoms was verified in the same family. The laboratory evaluation detected: low C1-INH levels (10/10); low serum C4 level (8/10); undetectable CH50 (3/10) and low CH50 levels (6/10); low APH50 levels (2/10). Six out of ten patients did not receive any specific treatment and 2 of them had high risk of asphyxia. One adolescent had been controlled with e-aminocaproic acid, one child had been changed from danazol to tranexamic acid, a 30 year old female patient had received oxandrolone and a 38 year old man had been treated with danazol.

Although HAE is caused by the same defect and affects members of the same family, various approaches have been taken to treat these patients. We observed different alternatives of prophylactic therapy for HAE, of which some did not require drug therapy.

    Hereditary Angioedema
    DIAGNOSIS

 was first described by William Osler in 1888 and it is caused by a

    hereditary or acquired deficiency of C1 esterase inhibitor (C1-INH)
    GENETICS

. Treatment is indicated for

    acute attacks
    SYMPTOMS

 or

    prophylaxis of angioedema which occur in the subcutaneous tissue respiratory or gastrointestinal tracts
    SYMPTOMS

. Treatment includes

    attenuated androgens
    MEDICATION

,

    inhibitors of kininogen or plasminogen, like tranexamic acid or e-aminocaproic acid
    MEDICATION

 and the

    administration of C1-INH concentrate
    MEDICATION

. We describe the peculiarities of the treatment chosen for 10 patients (4 families) with

    HAE
    DIAGNOSIS

 and their evolution.

Ten patients

    (1-38 years old
    AGE

) with

    HAE
    DIAGNOSIS

 were diagnosed by

    clinical history
    PARACLINICAL

 and

    laboratory evaluation
    PARACLINICAL

. The following tests were performed

    for the complement system
    PARACLINICAL

:

    C1-INH, C4 and C3 levels
    BIOCHEMICAL

 and

    hemolytic assay (CH50 and APH50) for the classic and alternative pathways
    BIOCHEMICAL

. Treatment was initiated considering severity of symptoms, age, gender and therapeutic response of the patient.

Clinical evaluation showed: 4/10 patients with

    recurrent subcutaneous edema
    SYMPTOMS

; 3/10 with

    previous laryngeal edema
    SYMPTOMS

 and 3/10 with

    sporadic symptoms
    SYMPTOMS

. Different severity of symptoms was verified in the same family. The

    laboratory evaluation
    PARACLINICAL

 detected:

    low C1-INH levels (10/10)
    BIOCHEMICAL

;

    low serum C4 level (8/10)
    BIOCHEMICAL

;

    undetectable CH50 (3/10) and low CH50 levels (6/10)
    BIOCHEMICAL

;

    low APH50 levels (2/10)
    BIOCHEMICAL

. Six out of ten patients

    did not receive any specific treatment
    NEG_FINDINGS

 and 2 of them had

    high risk of asphyxia
    SYMPTOMS

. One

    adolescent
    AGE

 had been

    controlled with e-aminocaproic acid
    MEDICATION

, one

    child
    AGE

    had been changed from danazol to tranexamic acid
    MEDICATION

, a

    30 year old
    AGE

    female
    GENDER

 patient had received

    oxandrolone
    MEDICATION

 and a

    38 year old
    AGE

    man
    GENDER

 had been

    treated with danazol
    MEDICATION

.

Although

    HAE
    DIAGNOSIS

 is caused by the same defect and

    affects members of the same family
    FAMILY

, various approaches have been taken to treat these patients. We observed different alternatives of

    prophylactic therapy
    MEDICATION

 for

    HAE
    DIAGNOSIS

, of which some did

    not require drug therapy
    NEG_FINDINGS

.

did not receive any specific treatment
not require drug therapy


Worsening fluid retention in a patient with hereditary angioedema and end-stage renal disease.

A 60-year-old woman who was diagnosed with hereditary angioedema (HAE) developed nephrotic syndrome, with end-stage renal disease (ESRD) occurring about 2.5 years later. During her slide toward ESRD, she experienced three severe episodes of angioedema that each resulted in significant fluid retention. Though the therapeutic administration of C1-inhibitor concentrate was effective in controlling her angioedema, seemed ineffective in preventing her from developing ESRD requiring hemodialysis treatment. We theorized that the patient's low colloid osmolality and glomerular perfusion were important facilitators of her attacks of angioedema.

A

    60-year-old
    AGE

    woman
    GENDER

 who was diagnosed with

    hereditary angioedema (HAE)
    DIAGNOSIS

 developed

    nephrotic syndrome
    DIAGNOSIS

, with

    end-stage renal disease (ESRD)
    DIAGNOSIS

 occurring about 2.5 years later. During her slide toward

    ESRD
    DIAGNOSIS

,

    she
    GENDER

 experienced three

    severe episodes of angioedema
    SYMPTOMS

 that each resulted in

    significant fluid retention
    SYMPTOMS

. Though the

    therapeutic administration of C1-inhibitor concentrate
    MEDICATION

 was effective in controlling her

    angioedema
    SYMPTOMS

,

    seemed ineffective in preventing her from developing ESRD requiring hemodialysis treatment
    NEG_FINDINGS

. We theorized that the patient's

    low colloid osmolality
    BIOCHEMICAL

 and

    glomerular perfusion
    BIOCHEMICAL

 were important facilitators of her

    attacks of angioedema
    SYMPTOMS

.

hereditary angioedema (HAE)
nephrotic syndrome
end-stage renal disease (ESRD)
ESRD

severe episodes of angioedema
significant fluid retention
angioedema
attacks of angioedema

low colloid osmolality
glomerular perfusion


Recurrent colocolic intussusception in a child with hereditary angioneurotic edema: reduction by air enema.

The authors discuss a case of hereditary angioneurotic edema in a child presenting with recurrent episodes of colocolic intussusception, each successfully reduced by air enema. Although additional manifestations of vasogenic edema are potential risks of the procedure, these were not encountered.

The authors discuss a case of

    hereditary angioneurotic edema
    DIAGNOSIS

 in a

    child
    AGE

 presenting with

    recurrent episodes of colocolic intussusception
    SYMPTOMS

, each successfully reduced by

    air enema
    MEDICATION

. Although

    additional manifestations of vasogenic edema
    SYMPTOMS

 are potential risks of the procedure, these were not encountered.


[Hereditary angioneurotic edema (Quincke's edema). Report of a case and literature review].

Familiar angioneurotic edema or Quincke's edema is an uncommon variant of urticaria, associated or not, that involves the subcutanean cell tissue and mucous of the face and upper airdigestive tract. It can produce an acute dyspnea and risk of suffocation with intubation or tracheostomy up to a 20% of the cases. The disease is a result of deficit in C esterasa inhibitor which autosomal dominant inheritance. We are reporting one clinical case confirmed as such corresponding to a 81 years-old male whom was operated by tracheotomy after sending from UCI with an emergency coniotomy and failure for orotracheal intubation.

    Familiar angioneurotic edema
    SYMPTOMS

 or

    Quincke's edema
    SYMPTOMS

 is an uncommon variant of

    urticaria
    DIAGNOSIS

, associated or not, that

    involves the subcutanean cell tissue and mucous of the face and upper airdigestive tract
    SYMPTOMS

. It can produce an

    acute dyspnea
    SYMPTOMS

 and risk of

    suffocation
    SYMPTOMS

 with

    intubation
    MEDICATION

 or

    tracheostomy
    MEDICATION

 up to a 20% of the cases. The disease is a result of

    deficit in C esterasa inhibitor
    BIOCHEMICAL

 which

    autosomal dominant inheritance
    GENETICS

. We are reporting one clinical case confirmed as such corresponding to a

    81 years-old
    AGE

    male
    GENDER

 whom was

    operated by tracheotomy
    MEDICATION

 after sending from

    UCI
    DIAGNOSIS

 with an

    emergency coniotomy
    MEDICATION

 and

    failure for orotracheal intubation
    NEG_FINDINGS

.

intubation
tracheostomy
operated by tracheotomy
emergency coniotomy


A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioedema.

We describe a patient with type I hereditary angioedema presenting recurrent episodes of skin swelling and abdominal pain. Laboratory examination showed reduced levels of CH50 and C4 with a normal C3 level. The C1 inhibitor was decreased to 7.0 mg/dl (normal, 10-25 mg/dl) with a remarkably reduced activity (<25%; normal, 80-125%). DNA analysis of the C1 inhibitor gene revealed a novel point mutation at the 3' acceptor mRNA splice site of the intron 5 (G-->A at nucleotide 8722). This mutation may abolish the correct splicing of the intron 5 and create unstable mRNA.

We describe a patient with

    type I hereditary angioedema
    DIAGNOSIS

 presenting

    recurrent episodes of skin swelling
    SYMPTOMS

 and

    abdominal pain
    SYMPTOMS

.

    Laboratory examination
    PARACLINICAL

 showed

    reduced levels of CH50 and C4
    BIOCHEMICAL

 with a

    normal C3 level
    BIOCHEMICAL

.

    The C1 inhibitor was decreased to 7.0 mg/dl (normal, 10-25 mg/dl) with a remarkably reduced activity (<25%; normal, 80-125%)
    BIOCHEMICAL

.

    DNA analysis of the C1 inhibitor gene
    PARACLINICAL

 revealed a

    novel point mutation at the 3' acceptor mRNA splice site of the intron 5 (G-->A at nucleotide 8722)
    GENETICS

. This

    mutation may abolish the correct splicing of the intron 5 and create unstable mRNA
    GENETICS

.

recurrent episodes of skin swelling
abdominal pain


Oxandrolone treatment of childhood hereditary angioedema.

The virilizing effects of danazol, stanozolol, and methyltestosterone significantly restrict the usefulness of these agents in the treatment of children with hereditary angioedema (HAE). Oxandrolone is a synthetic anabolic steroid with limited virilizing effects that has been used in a variety of pediatric conditions and has an acceptable safety profile.

To report the effective use of oxandrolone in a 6-year-old boy with recurrent, life-threatening episodes of angioedema.

Oxandrolone was administered at a dose of 0.1 mg/kg per day. Symptoms and laboratory findings were evaluated by parental report and laboratory analysis of serum C1 esterase inhibitor and C4 levels, respectively.

Oxandrolone therapy resulted in a marked reduction in clinical episodes and normalization of serum complement levels; cessation of oxandrolone therapy resulted in recurrence of symptoms and decreased complement levels. However, early signs of virilization were noted.

Oxandrolone treatment was associated with significant clinical and laboratory evidence of a therapeutic effect in a prepuberal boy with HAE. It is imperative to treat HAE with the lowest dose of oxandrolone that controls life-threatening episodes of angioedema.

The

    virilizing effects of danazol
    NEG_FINDINGS

,

    stanozolol
    MEDICATION

, and

    methyltestosterone
    MEDICATION

 significantly restrict the usefulness of these agents in the treatment of

    children
    AGE

 with

    hereditary angioedema (HAE)
    DIAGNOSIS

.

    Oxandrolone is a synthetic anabolic steroid
    MEDICATION

 with

    limited virilizing effects
    NEG_FINDINGS

 that has been used in a variety of

    pediatric
    AGE

 conditions and has an acceptable safety profile.

To report the

    effective use of oxandrolone
    MEDICATION

 in a

    6-year-old
    AGE

    boy
    GENDER

 with

    recurrent, life-threatening episodes of angioedema
    SYMPTOMS

.

    Oxandrolone was administered at a dose of 0.1 mg/kg per day
    MEDICATION

. Symptoms and

    laboratory findings
    PARACLINICAL

 were evaluated by

    parental report
    PARACLINICAL

 and

    laboratory analysis of serum C1 esterase inhibitor and C4 levels
    PARACLINICAL

, respectively.

    Oxandrolone therapy
    MEDICATION

 resulted in a

    marked reduction in clinical episodes
    SYMPTOMS

 and

    normalization of serum complement levels
    BIOCHEMICAL

;

    cessation of oxandrolone therapy
    MEDICATION

 resulted in

    recurrence of symptoms
    SYMPTOMS

 and

    decreased complement levels
    BIOCHEMICAL

. However,

    early signs of virilization
    SYMPTOMS

 were noted.

    Oxandrolone treatment
    MEDICATION

 was associated with

    significant clinical and laboratory evidence of a therapeutic effect
    SYMPTOMS

 in a

    prepuberal
    AGE

    boy
    GENDER

 with

    HAE
    DIAGNOSIS

. It is imperative to treat

    HAE
    DIAGNOSIS

 with the

    lowest dose of oxandrolone
    MEDICATION

 that controls

    life-threatening episodes of angioedema
    SYMPTOMS

.

virilizing effects of danazol
limited virilizing effects


[Osler's hereditary angioneurotic edema as rare but possible cause of false surgical acute abdomen].

The authors are presenting one case of Osler's hereditary angioneurotic oedema, rare genetic disease with dominant autosomal transmission linked to the 11-th chromosome, with clinical aspects resembling to those of surgical acute abdomen, with difficult diagnostic problems. The treatment consist in: fresh plasma administration, antihistaminic drugs and anabolic steroids. The simple laparotomy under general anaesthesia by orotraheal intubation being very dangerous. The patients with Osler's hereditary angioneurotic oedema must be followed-up by the allergology services and educated regarding the disease and it's risks to avoid diagnostic errors with following negative consequences.

The authors are presenting one case of

    Osler's hereditary angioneurotic oedema
    DIAGNOSIS

,

    rare genetic disease with dominant autosomal transmission linked to the 11-th chromosome
    GENETICS

, with

    clinical aspects resembling to those of surgical acute abdomen
    SYMPTOMS

, with difficult diagnostic problems. The treatment consist in:

    fresh plasma administration
    MEDICATION

,

    antihistaminic drugs
    MEDICATION

 and

    anabolic steroids
    MEDICATION

. The

    simple laparotomy under general anaesthesia by orotraheal intubation
    MEDICATION

 being very dangerous. The patients with

    Osler's hereditary angioneurotic oedema
    DIAGNOSIS

 must be followed-up by the

    allergology
    PARACLINICAL

 services and educated regarding the disease and it's risks to avoid diagnostic errors with following negative consequences.

Osler's hereditary angioneurotic oedema
Osler's hereditary angioneurotic oedema


[Hereditary angioedema of delayed onset].

Hereditary angioedema is a disorder characterized by episodes of angioedema of the skin, respiratory and gastrointestinal tract resulting from a defect in the C1 esterase inhibitor. The disease is hereditary. Inheritance is autosomal dominant with incomplete penetration. We report a 56-year-old man with edema in different locations as forearm, testicles and palms. It started recently. The study showed low levels of C4, and C1 inhibitor. He was diagnosed of hereditary angioedema and it was necessary the family study.

    Hereditary angioedema
    DIAGNOSIS

 is a disorder characterized by

    episodes of angioedema of the skin, respiratory and gastrointestinal tract
    SYMPTOMS

 resulting from a

    defect in the C1 esterase inhibitor
    BIOCHEMICAL

. The disease is

    hereditary
    GENETICS

.

    Inheritance is autosomal dominant with incomplete penetration
    GENETICS

. We report a

    56-year-old
    AGE

    man
    GENDER

 with

    edema in different locations as forearm, testicles and palms
    SYMPTOMS

. It started recently. The study showed

    low levels of C4, and C1 inhibitor
    BIOCHEMICAL

.

    He
    GENDER

 was diagnosed of

    hereditary angioedema
    DIAGNOSIS

 and it was necessary the

    family study
    PARACLINICAL

.

defect in the C1 esterase inhibitor
low levels of C4, and C1 inhibitor


Normal complement C4 values do not exclude hereditary angioedema.

This report describes a patient with hereditary angioedema (HAE) in whom complement C4 values were consistently normal. There was a family history of HAE, for which the patient had previously been screened, but in view of her normal C4 values she was deemed unaffected. However, at 10 years of age she presented with an eight month history of episodes of swelling affecting her hands and recurrent episodes of abdominal pain over the previous few months. In view of the recent clinical history of swellings and the family history of HAE, C4 and C1 inhibitor (C1inh) were measured. The C4 concentration was found to be within the normal range but the C1inh value was low (0.07 g/litre; normal range, 0.18-0.37). The patient was started on tranexamic acid and at an outpatient review three months later her episodes of swelling were occurring less often and were less severe. Although recent papers have suggested that the diagnosis of HAE can be excluded if complement C4 concentrations are normal, this case highlights the fact that C4 concentrations can be normal in this condition, and it is recommended that both C4 and C1inh concentrations should be measured to exclude HAE.

This report describes a patient with

    hereditary angioedema (HAE)
    DIAGNOSIS

 in whom

    complement C4 values were consistently normal
    NEG_FINDINGS

. There was a

    family history of HAE
    FAMILY

, for which the patient had previously been screened, but in view of

    her
    GENDER

    normal C4 values
    NEG_FINDINGS

    she
    GENDER

 was deemed unaffected. However, at

    10 years of age
    AGE

    she
    GENDER

 presented with an eight month history of

    episodes of swelling affecting her hands
    SYMPTOMS

 and

    recurrent episodes of abdominal pain over the previous few months
    SYMPTOMS

. In view of the recent clinical history of

    swellings
    SYMPTOMS

 and the

    family history of HAE
    FAMILY

,

    C4 and C1 inhibitor (C1inh)
    BIOCHEMICAL

 were

    measured
    PARACLINICAL

. The

    C4 concentration was found to be within the normal range
    BIOCHEMICAL

 but

    the C1inh value was low (0.07 g/litre; normal range, 0.18-0.37)
    BIOCHEMICAL

. The patient was

    started on tranexamic acid
    MEDICATION

 and at an outpatient review three months later her

    episodes of swelling were occurring less often and were less severe
    SYMPTOMS

. Although recent papers have suggested that the diagnosis of

    HAE
    DIAGNOSIS

 can be excluded if

    complement C4 concentrations are normal
    NEG_FINDINGS

, this case highlights the fact that

    C4 concentrations can be normal
    NEG_FINDINGS

 in this condition, and it is recommended that both

    C4 and C1inh concentrations
    BIOCHEMICAL

 should be

    measured
    PARACLINICAL

 to exclude

    HAE
    DIAGNOSIS

.


A case of hereditary angioedema with recurrent arthritis, erythema marginatum-like rash and chest pain.

Hereditary angioedema (HAE) results from a congenital deficiency of C1 inhibitor and is characterized by submucosal and subcutaneous edema of skin, larynx and abdomen. Occasional reports have appeared linking HAE with autoimmune diseases. We report a case of HAE presenting recurrent nondeforming polyarthritis, erythema marginatum-like rash and chest pain. There were no significant radiographic joint changes. Serologic tests for rheumatologic and autoimmune diseases were negative. After danazol treatment, physical examination and laboratory findings were normal over five years. We suggest that pediatricians should be aware of this rare disease and treat patients accordingly.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 results from a

    congenital
    GENETICS

    deficiency of C1 inhibitor
    BIOCHEMICAL

 and is characterized by

    submucosal and subcutaneous edema of skin, larynx and abdomen
    SYMPTOMS

. Occasional reports have appeared linking

    HAE
    DIAGNOSIS

 with

    autoimmune diseases
    DIAGNOSIS

. We report a case of

    HAE
    DIAGNOSIS

 presenting

    recurrent nondeforming polyarthritis
    SYMPTOMS

,

    erythema marginatum-like rash
    SYMPTOMS

 and

    chest pain
    SYMPTOMS

. There were

    no significant radiographic joint changes
    NEG_FINDINGS

.

    Serologic tests for rheumatologic and autoimmune diseases were negative
    NEG_FINDINGS

.

    After danazol treatment
    NEG_FINDINGS

,

    physical examination and laboratory findings were normal over five years
    NEG_FINDINGS

. We suggest that

    pediatricians
    PARACLINICAL

 should be aware of this rare disease and treat patients accordingly.

Hereditary angioedema (HAE)
HAE
autoimmune diseases
HAE


Two related cases of primary complement deficiency.

Primary complement deficiencies are rare and two related patients are reported here. The first patient is a 41-year-old man with eighteen episodes of pneumococcal meningitis and other purulent infections. The serum C3 level was checked at three separate times, showing that this was a primary C3 deficient case; other immunological tests were normal. This patient now takes prophylactic antibiotics and the meningitis had not recurred, but he does have glomerulonephritis. The second case is a 40-year-old woman with repeated episodes of orofacial and laryngeal edema and dyspnea. The serum C1INH levels were 4.3 to 7 which is very low compared with normal healthy subjects (C1INH was 40-50 mg/dl) and C4 was lower than normal but other immunological tests were normal. Other causes of angioedema such as lymphoproliferative disorders were excluded. She had hereditary angioedema without a family background. The condition may be due to genetic mutation. The angioedema was controlled with Danazol and Stanasol. As our patients are related, this may suggest a genetic relationship between these two disorders.

    Primary complement deficiencies
    BIOCHEMICAL

 are rare and two related patients are reported here. The first patient is a

    41-year-old
    AGE

    man
    GENDER

 with

    eighteen episodes of pneumococcal meningitis
    SYMPTOMS

 and

    other purulent infections
    SYMPTOMS

. The

    serum C3 level was checked
    BIOCHEMICAL

 at three separate times, showing that this was a

    primary C3 deficient
    BIOCHEMICAL

 case;

    other immunological tests were normal
    NEG_FINDINGS

. This patient now takes

    prophylactic antibiotics
    MEDICATION

 and the

    meningitis had not recurred
    NEG_FINDINGS

, but

    he
    GENDER

 does have

    glomerulonephritis
    DIAGNOSIS

. The second case is a

    40-year-old
    AGE

    woman
    GENDER

 with

    repeated episodes of orofacial and laryngeal edema
    SYMPTOMS

 and

    dyspnea
    SYMPTOMS

. The

    serum C1INH levels were 4.3 to 7 which is very low compared with normal healthy subjects (C1INH was 40-50 mg/dl)
    BIOCHEMICAL

 and

    C4 was lower than normal
    BIOCHEMICAL

 but

    other immunological tests were normal
    NEG_FINDINGS

.

    Other causes of angioedema such as lymphoproliferative disorders were excluded
    NEG_FINDINGS

.

    She
    GENDER

 had

    hereditary angioedema
    DIAGNOSIS

    without a family background
    NEG_FINDINGS

. The condition may be due to

    genetic mutation
    GENETICS

. The

    angioedema
    DIAGNOSIS

 was controlled with

    Danazol and Stanasol
    MEDICATION

. As our patients are related, this may suggest a

    genetic relationship between these two disorders
    FAMILY

.

prophylactic antibiotics
Danazol and Stanasol

glomerulonephritis
hereditary angioedema
angioedema


Management of oral surgery in patients with hereditary or acquired angioedemas: review and case report.

Angioedemas are a rare but significant event in simple oral surgery because they can cause an acute life-threatening laryngeal edema. We report a case of a tooth extraction in a patient with hereditary angioedema, for which the C1-inhibitor (C1-INH) concentration administered effectively controlled edema during and after extraction. We also review case reports of oral surgery management in patients with hereditary and acquired angioedemas. In 2 of 36 cases, laryngeal edema occurred after teeth extraction. One was considered to be a type 2 acquired angioedema, which tolerates replacement therapy with fresh frozen plasma. The other case was managed only with danazol, and it was suggested that this was on occasion insufficient. Safety of oral surgery on patients with angioedema depends on the type of angioedema and the availability of C1-INH concentration. An exact diagnosis of the type of angioedema is needed to know the effect of replacement therapy with C1-INH.

    Angioedemas
    DIAGNOSIS

 are a rare but significant event in

    simple oral surgery
    MEDICATION

 because they can cause an

    acute life-threatening laryngeal edema
    SYMPTOMS

. We report a case of a

    tooth extraction
    MEDICATION

 in a patient with

    hereditary angioedema
    DIAGNOSIS

, for which the

    C1-inhibitor (C1-INH) concentration administered
    MEDICATION

 effectively

    controlled edema during and after extraction
    SYMPTOMS

. We also review case reports of

    oral surgery
    MEDICATION

 management in patients with

    hereditary and acquired angioedemas
    DIAGNOSIS

. In 2 of 36 cases,

    laryngeal edema
    SYMPTOMS

 occurred after

    teeth extraction
    MEDICATION

. One was considered to be a

    type 2 acquired angioedema
    DIAGNOSIS

, which tolerates

    replacement therapy with fresh frozen plasma
    MEDICATION

. The other case was

    managed only with danazol
    MEDICATION

, and it was suggested that

    this was on occasion insufficient
    NEG_FINDINGS

. Safety of

    oral surgery
    MEDICATION

 on patients with

    angioedema
    DIAGNOSIS

 depends on the type of

    angioedema
    DIAGNOSIS

 and the availability of

    C1-INH concentration
    BIOCHEMICAL

. An exact diagnosis of the type of

    angioedema
    DIAGNOSIS

 is needed to know the effect of

    replacement therapy with C1-INH
    MEDICATION

.

Angioedemas
hereditary angioedema
hereditary and acquired angioedemas
type 2 acquired angioedema
angioedema
angioedema
angioedema


Safety and efficacy of pasteurized C1 inhibitor concentrate (Berinert P) in hereditary angioedema: a review. jean.de.serres@aventis.com.

Hereditary angioedema caused by C1 inhibitor deficiency can be life threatening. Acute exacerbations are treated with intravenous purified, pasteurized C1 esterase inhibitor concentrate at doses of 500-1000 IU.

We reviewed the literature about safety and efficacy of the C1 inhibitor concentrate used in Canada (Berinert P) or relevant to it.

Post-marketing experience since 1985 is reassuring. There were few adverse events and no transmission of infection with the pasteurized product. A number of case reports, retrospective studies and few randomized or non-randomized prospective studies have shown good efficacy measured as clinical resolution of symptoms or in time to resolution, time to relief or time to improvement.

There are numerous observational studies showing good efficacy and safety and a long post-marketing experience although few randomized placebo-controlled trials.

    Hereditary angioedema
    DIAGNOSIS

 caused by

    C1 inhibitor deficiency
    BIOCHEMICAL

 can be

    life threatening
    SYMPTOMS

.

    Acute exacerbations
    SYMPTOMS

 are treated with

    intravenous purified, pasteurized C1 esterase inhibitor concentrate at doses of 500-1000 IU
    MEDICATION

.

We reviewed the literature about safety and efficacy of the

    C1 inhibitor concentrate
    MEDICATION

 used in Canada (

    Berinert P)
    MEDICATION

 or relevant to it.

Post-marketing experience since 1985 is reassuring. There were

    few adverse events
    NEG_FINDINGS

 and

    no transmission of infection with the pasteurized product
    NEG_FINDINGS

. A number of case reports, retrospective studies and few randomized or non-randomized prospective studies have shown good efficacy measured as

    clinical resolution of symptoms
    SYMPTOMS

 or in time to resolution, time to relief or time to improvement.

life threatening
Acute exacerbations
clinical resolution of symptoms


Hereditary angioedema and pneumomediastinum.

Gastrointestinal and respiratory involvement is common in hereditary angioedema, laryngeal edema being the main cause of mortality in these patients. We report the case of an 18 year-old woman with a history of hereditary angioedema, who presented an episode of coughing and vomiting the night before, and who was diagnosed with pneumomediastinum as a complication of an episode of angioedema. We review the causes and pathogenesis of the mediastinic emphysema.

    Gastrointestinal and respiratory involvement
    SYMPTOMS

 is common in

    hereditary angioedema
    DIAGNOSIS

,

    laryngeal edema
    SYMPTOMS

 being the main cause of mortality in these patients. We report the case of an

    18 year-old
    AGE

    woman
    GENDER

 with a history of

    hereditary angioedema
    DIAGNOSIS

, who presented an

    episode of coughing
    SYMPTOMS

 and

    vomiting
    SYMPTOMS

 the night before, and who was diagnosed with

    pneumomediastinum
    DIAGNOSIS

 as a complication of an episode of

    angioedema
    DIAGNOSIS

. We review the causes and pathogenesis of the

    mediastinic emphysema
    SYMPTOMS

.

hereditary angioedema
hereditary angioedema
pneumomediastinum
angioedema


Laryngeal edema and death from asphyxiation after tooth extraction in four patients with hereditary angioedema.

Recurrent angioedema is the hallmark of various inherited or acquired angioedema diseases. Hereditary angioedema, or HAE, due to C1 inhibitor, or C1NH, deficiency has considerable implications for dental health care providers because dental surgery may trigger distressing and even life-threatening episodes.

The authors reviewed the literature, focusing on the pathogenesis, clinical signs and treatment of HAE. They also provided case reports of four patients who died from laryngeal edema induced by tooth extraction. In patients with HAE, dental surgery--including tooth extraction--may be followed by self-limiting edema episodes, including lip swelling, facial swelling, tongue edema and laryngeal edema with upper airway obstruction. Preoperative prophylaxis has been performed with attenuated androgens, fresh frozen plasma, C1NH concentrate and antifibrinolytics. The four patients described underwent tooth extraction, which, after a symptom-free latency of four to 30 hours, provoked laryngeal edema. Three of the patients died of asphyxiation the night after surgery, and the fourth died on the second night. In three of the patients, laryngeal edema had not occurred previously.

Before undergoing dental surgery, patients with a history of recurrent angioedema should be evaluated for C1NH deficiency. If it is present, they are at risk of developing life-threatening laryngeal edema.

    Recurrent angioedema
    SYMPTOMS

 is the hallmark of various

    inherited
    GENETICS

 or

    acquired angioedema diseases
    DIAGNOSIS

.

    Hereditary angioedema, or HAE
    DIAGNOSIS

, due to

    C1 inhibitor, or C1NH, deficiency
    BIOCHEMICAL

 has considerable implications for dental health care providers because

    dental surgery
    MEDICATION

 may trigger

    distressing and even life-threatening episodes
    SYMPTOMS

.

The authors reviewed the literature, focusing on the pathogenesis, clinical signs and treatment of

    HAE
    DIAGNOSIS

. They also provided case reports of four patients who

    died
    SYMPTOMS

 from

    laryngeal edema
    SYMPTOMS

 induced by

    tooth extraction
    MEDICATION

. In patients with

    HAE
    DIAGNOSIS

,

    dental surgery
    MEDICATION

--including

    tooth extraction
    MEDICATION

--may be followed by

    self-limiting edema episodes
    SYMPTOMS

, including

    lip swelling
    SYMPTOMS

,

    facial swelling
    SYMPTOMS

,

    tongue edema
    SYMPTOMS

 and

    laryngeal edema
    SYMPTOMS

 with

    upper airway obstruction
    SYMPTOMS

.

    Preoperative prophylaxis
    MEDICATION

 has been performed with

    attenuated androgens, fresh frozen plasma, C1NH concentrate and antifibrinolytics
    MEDICATION

. The four patients described underwent

    tooth extraction
    MEDICATION

, which, after a

    symptom-free latency of four to 30 hours
    SYMPTOMS

, provoked

    laryngeal edema
    SYMPTOMS

. Three of the patients

    died of asphyxiation
    SYMPTOMS

 the night after

    surgery
    MEDICATION

, and the fourth

    died
    SYMPTOMS

 on the second night. In three of the patients,

    laryngeal edema had not occurred previously
    NEG_FINDINGS

.

Before undergoing

    dental surgery
    MEDICATION

, patients with a history of

    recurrent angioedema
    SYMPTOMS

 should be evaluated for

    C1NH deficiency
    BIOCHEMICAL

. If it is present, they are at risk of developing

    life-threatening laryngeal edema
    SYMPTOMS

.

acquired angioedema diseases
Hereditary angioedema, or HAE
HAE
HAE

C1 inhibitor, or C1NH, deficiency
C1NH deficiency


C-1 esterase inhibitor dysfunction localised to the periodontal tissues: clues to the role of stress in the pathogenesis of chronic periodontitis?

C1-esterase inhibitor (C1eIn) is an important modulator of complement activation via the classical pathway. Deficiencies or dysfunction involving this inhibitor underlie the condition of angioneurotic oedema.

The purpose of this report is to describe a female patient who presented at the age of 24 years with an apparently aggressive form of periodontitis and severe oedema, localised to the free gingival tissues. After 21 years of repeated surgical reduction of the gingiva, a diagnosis of C1eIn dysfunction was made.

Exhaustive serological investigations were performed along with histopathology.

All investigations were unremarkable, until the function of the C1eIn molecule was investigated. These demonstrated a functional activity of only 29% and a raised C1q at 157 mg/l. Subsequent repeated investigation with careful specimen handling demonstrated undetectable levels of C1eIn and normal C1q. A diagnosis of C1eIn dysfunction was made, although at present it is unclear whether this represents an unusual variant of hereditary dysfunctional C1eIn deficiency. The patient was managed by various means, including steriodal and non-steroidal drugs, the latter forming part of her maintenance regime.

To our knowledge, this is the first case of angio-oedema localised to the free gingiva. The role of stress in the acute exacerbations of oedema and bone loss is discussed along with the diagnostic pitfalls associated with this case.

    C1-esterase inhibitor (C1eIn)
    BIOCHEMICAL

 is an important

    modulator of complement activation via the classical pathway
    BIOCHEMICAL

.

    Deficiencies
    BIOCHEMICAL

 or

    dysfunction involving this inhibitor
    BIOCHEMICAL

 underlie the condition of

    angioneurotic oedema
    SYMPTOMS

.

The purpose of this report is to describe a

    female
    GENDER

 patient who presented at the

    age of 24 years
    AGE

 with an

    apparently aggressive form of periodontitis
    SYMPTOMS

 and

    severe oedema, localised to the free gingival tissues
    SYMPTOMS

. After

    21 years of repeated surgical reduction of the gingiva
    MEDICATION

, a diagnosis of

    C1eIn dysfunction
    BIOCHEMICAL

 was made.

    Exhaustive serological investigations were performed along with histopathology
    PARACLINICAL

.

    All investigations were unremarkable
    NEG_FINDINGS

, until the

    function of the C1eIn molecule
    BIOCHEMICAL

 was investigated. These demonstrated a

    functional activity of only 29%
    BIOCHEMICAL

 and a raised C1q at 157 mg/l. Subsequent

    repeated investigation with careful specimen handling
    PARACLINICAL

 demonstrated

    undetectable levels of C1eIn and normal C1q
    BIOCHEMICAL

. A diagnosis of

    C1eIn dysfunction
    BIOCHEMICAL

 was made, although at present it is unclear whether this represents an unusual variant of

    hereditary dysfunctional C1eIn deficiency
    GENETICS

. The patient was

    managed by various means
    MEDICATION

, including

    steriodal and non-steroidal drugs
    MEDICATION

,

    the latter forming part of her maintenance regime
    MEDICATION

.

To our knowledge, this is the first case of

    angio-oedema localised to the free gingiva
    SYMPTOMS

. The role of

    stress
    SYMPTOMS

 in the

    acute exacerbations of oedema
    SYMPTOMS

 and

    bone loss
    SYMPTOMS

 is discussed along with the diagnostic pitfalls associated with this case.


Hereditary angioedema: a case report and literature review.

Hereditary angioedema is an autosomal dominant condition with a typical presentation of diffuse edematous, painless, and nonpitting swelling of the soft tissues. The disease manifests itself primarily in the extremities, face, airway, and abdominal viscera. Proper diagnosis and treatment are essential as this condition has the capacity of becoming life-threatening due to potential airway embarrassment. This case report demonstrates the complexity of diagnosing and treating hereditary angioedema. Hereditary angioedema often is overlooked on a differential diagnosis of patients suffering from diffuse swelling and/or abdominal discomfort. Nonetheless, the diagnosis of hereditary angioedema should be included when assessing patients who display the proper symptomology and familial history of the condition.

    Hereditary angioedema
    DIAGNOSIS

 is an

    autosomal dominant
    GENETICS

 condition with a typical presentation of

    diffuse edematous, painless, and nonpitting swelling of the soft tissues
    SYMPTOMS

. The disease manifests itself

    primarily in the extremities, face, airway, and abdominal viscera
    SYMPTOMS

. Proper diagnosis and treatment are essential as this condition has the capacity of becoming

    life-threatening
    SYMPTOMS

 due to potential

    airway embarrassment
    SYMPTOMS

. This case report demonstrates the complexity of diagnosing and treating

    hereditary angioedema
    DIAGNOSIS

.

    Hereditary angioedema
    DIAGNOSIS

 often is overlooked on a

    differential diagnosis
    PARACLINICAL

 of patients suffering from

    diffuse swelling
    SYMPTOMS

 and/or

    abdominal discomfort
    SYMPTOMS

. Nonetheless, the diagnosis of

    hereditary angioedema
    DIAGNOSIS

 should be included when assessing patients who display the proper symptomology and

    familial history of
    FAMILY

 the condition.

Hereditary angioedema
hereditary angioedema
Hereditary angioedema
hereditary angioedema


[The rare case of successful pregnancy and delivery in patient with hereditary angioedema].

A rare case of successful pregnancy and delivery of a patient with Hereditary angioedema is described. The complications of the disease during pregnancy are described as well as the possibilities for their prevention. The delivery was accomplished without complications and the preoperative preparations are listed. The treatment of HAE in general is divided into two groups: short-term (Fresh frozen plasma) and long-term prophylaxis (antifibrinolytic agents, androgen therapy) and acute treatment (epinephrine, steroids, antihistamines, eventually tracheotomy).

A rare case of

    successful pregnancy and delivery
    MEDICATION

 of a patient with

    Hereditary angioedema
    DIAGNOSIS

 is described. The complications of the disease during

    pregnancy
    DIAGNOSIS

 are described as well as the possibilities for their prevention. The

    delivery
    MEDICATION

 was accomplished

    without complications
    NEG_FINDINGS

 and the preoperative preparations are listed. The treatment of

    HAE
    DIAGNOSIS

 in general is divided into two groups:

    short-term (Fresh frozen plasma) and long-term prophylaxis (antifibrinolytic agents, androgen therapy)
    MEDICATION

 and

    acute treatment (epinephrine, steroids, antihistamines, eventually tracheotomy)
    MEDICATION

.


[Angioedema: first manifestation of non-Hodgkin's lymphoma].

Angioedema can be hereditary or acquired. Hereditary angioedema is a genetic disease transmitted with an autosomal dominant mechanism. Acquired angioedema usually occurs after the second decade of life and is often related to an underlying disease. In a 48-year-old male patient a diagnosis of a non-Hodgkin lymphoma was made after two episodes of angioedema. No previously documented cases of angioedema in his family were reported; physical examination and routine blood samples were normal whereas the serum levels of C1-esterase inhibitor were reduced. Three months later he presented with epigastric pain after meals and weight loss. Abdominal ultrasonography and computed tomography showed two solid splenic masses infiltrating the greater curvature of the stomach and a 2 cm aortic lymph node. Digestive endoscopy confirmed the neoplastic infiltration. A diagnosis of anaplastic large-cells lymphoma CD30+, anaplastic lymphoma kinase negative was made. The disappearance of the neoplastic gastric infiltration and the decrease in size of the aortic lymph node and splenic mass were achieved after chemotherapy. Serum levels of C1-esterase inhibitor returned to normal. An adult onset not associated with a family history of angioedema should lead the physician to suspect the presence of a major disease.

    Angioedema
    DIAGNOSIS

 can be

    hereditary
    GENETICS

 or

    acquired
    DIAGNOSIS

.

    Hereditary angioedema
    DIAGNOSIS

 is a

    genetic disease transmitted with an autosomal dominant mechanism
    GENETICS

.

    Acquired angioedema
    DIAGNOSIS

 usually occurs

    after the second decade of life
    AGE

 and is often related to an underlying disease. In a

    48-year-old
    AGE

    male
    GENDER

 patient a diagnosis of a

    non-Hodgkin lymphoma
    DIAGNOSIS

 was made after two episodes of

    angioedema
    SYMPTOMS

.

    No previously documented cases of angioedema in his family
    FAMILY

 were reported;

    physical examination and routine blood samples were normal
    NEG_FINDINGS

 whereas the

    serum levels of C1-esterase inhibitor were reduced
    BIOCHEMICAL

. Three months later

    he
    GENDER

 presented with

    epigastric pain after meals
    SYMPTOMS

 and

    weight loss
    SYMPTOMS

.

    Abdominal ultrasonography
    PARACLINICAL

 and

    computed tomography
    PARACLINICAL

 showed

    two solid splenic masses infiltrating the greater curvature of the stomach and a 2 cm aortic lymph node
    SYMPTOMS

.

    Digestive endoscopy
    PARACLINICAL

 confirmed the

    neoplastic infiltration
    MICROSCOPIC

. A diagnosis of

    anaplastic large-cells lymphoma CD30+, anaplastic lymphoma kinase negative
    DIAGNOSIS

 was made. The

    disappearance of the neoplastic gastric infiltration
    MICROSCOPIC

 and the

    decrease in size of the aortic lymph node and splenic mass
    SYMPTOMS

 were achieved after

    chemotherapy
    MEDICATION

.

    Serum levels of C1-esterase inhibitor returned to normal
    BIOCHEMICAL

. An

    adult
    AGE

 onset

    not associated with a family history of angioedema
    NEG_FINDINGS

 should lead the physician to suspect the presence of a major disease.


Lupus erythematosus associated with C1 inhibitor deficiency.

We report here a patient with skin lesions of lupus erythematosus (LE) associated with a type 1 hereditary C1 inhibitor deficiency. She had not experienced any episodes of angioedema. A histological examination of the affected skin lesions demonstrated liquefaction of the basal cell layer in the perifollicule. Direct immunofluorescence staining revealed the granular deposition of IgM along the dermo-epidermal junction. Blood laboratory examinations revealed low levels of CH50, C1q, C4, C2 and C1 inhibitor, but the C3 and C5 levels were within normal limits. Similar reductions in the C1 inhibitor levels were observed in 2 out of 3 sisters. Although one sister has been asymptomatic until now, the other has suffered from SLE. The antinuclear antibody titer was negative initially, but has changed to positive. The skin lesions became pigmented following topical corticosteroid therapy, but the deficient complement component levels remained unchanged. We also reviewed 23 cases in the literature of hereditary C1 inhibitor deficiency associated with SLE, DLE, LE-like eruption, and SCLE and discussed several common characteristics such as a female predominance, a high incidence of antinuclear antibodies, cutaneous manifestations, and photosensitivity.

We report here a patient with

    skin lesions
    SYMPTOMS

 of

    lupus erythematosus (LE)
    DIAGNOSIS

 associated with a

    type 1 hereditary C1 inhibitor deficiency
    BIOCHEMICAL

.

    She
    GENDER

 had

    not experienced any episodes of angioedema
    NEG_FINDINGS

. A

    histological examination
    PARACLINICAL

 of the

    affected skin lesions
    SYMPTOMS

 demonstrated

    liquefaction of the basal cell layer in the perifollicule
    MICROSCOPIC

.

    Direct immunofluorescence staining
    PARACLINICAL

 revealed the

    granular deposition of IgM along the dermo-epidermal junction
    MICROSCOPIC

.

    Blood laboratory examinations
    PARACLINICAL

 revealed

    low levels of CH50, C1q, C4, C2 and C1 inhibitor
    BIOCHEMICAL

, but

    the C3 and C5 levels were within normal limits
    NEG_FINDINGS

.

    Similar reductions in the C1 inhibitor levels
    FAMILY

    were observed in 2 out of 3 sisters
    FAMILY

.

    Although one sister has been asymptomatic
    FAMILY

 until now,

    the other has suffered from SLE
    FAMILY

. The

    antinuclear antibody titer was negative initially
    NEG_FINDINGS

, but has

    changed to positive
    BIOCHEMICAL

. The

    skin lesions became pigmented
    SYMPTOMS

 following

    topical corticosteroid therapy
    MEDICATION

, but the

    deficient complement component levels remained unchanged
    BIOCHEMICAL

. We also reviewed 23 cases in the literature of

    hereditary C1 inhibitor deficiency
    BIOCHEMICAL

    associated with SLE
    DIAGNOSIS

,

    DLE
    DIAGNOSIS

,

    LE-like eruption
    DIAGNOSIS

, and

    SCLE
    DIAGNOSIS

 and discussed several common characteristics such as a

    female
    GENDER

 predominance, a high incidence of

    antinuclear antibodies
    BIOCHEMICAL

,

    cutaneous manifestations
    SYMPTOMS

, and

    photosensitivity
    SYMPTOMS

.

skin lesions
affected skin lesions
skin lesions became pigmented
cutaneous manifestations
photosensitivity

lupus erythematosus (LE)
associated with SLE
DLE
LE-like eruption
SCLE


[Recurrent attacks of angioedema ascribed to the use of estrogen preparations and a pregnancy (hereditary angioedema type 3)].

A woman experienced recurrent attacks of angioedema from the age of 17 to 21 years and these appeared to be associated with the use of oestrogens. After stopping the medication her complaints disappeared, but they returned during her first pregnancy. Angioedema is a serious condition, which can lead to acute abdominal symptoms, oedema of the upper respiratory tract and death by asphyxiation. The most well-known cause is hereditary angioedema, an autosomal dominant disorder that is characterized by deficiency of C1 esterase inhibitor (C1-INH). Recently, a new type of hereditary angioedema (type 3) has been reported that occurs exclusively in women and is characterised by oestrogen dependency (both endogenous and exogenous), normal C1-INH concentrations and severe attacks of angioedema, which are clinically indistinguishable from the classic form.

A

    woman
    GENDER

 experienced

    recurrent attacks of angioedema
    SYMPTOMS

 from the

    age of 17 to 21 years
    AGE

 and these appeared to be associated with the

    use of oestrogens
    MEDICATION

. After

    stopping the medication
    MEDICATION

    her
    GENDER

 complaints disappeared, but they returned during her first

    pregnancy
    SYMPTOMS

.

    Angioedema
    DIAGNOSIS

 is a serious condition, which can lead to

    acute abdominal symptoms
    SYMPTOMS

,

    oedema of the upper respiratory tract
    SYMPTOMS

 and

    death
    SYMPTOMS

 by

    asphyxiation
    SYMPTOMS

. The most well-known cause is

    hereditary angioedema
    DIAGNOSIS

, an

    autosomal dominant disorder
    GENETICS

 that is characterized by

    deficiency of C1 esterase inhibitor (C1-INH)
    BIOCHEMICAL

. Recently, a new type of

    hereditary angioedema (type 3)
    DIAGNOSIS

 has been reported that occurs exclusively in

    women
    GENDER

 and is characterised by

    oestrogen dependency (both endogenous and exogenous)
    SYMPTOMS

,

    normal C1-INH concentrations
    NEG_FINDINGS

 and

    severe attacks of angioedema
    SYMPTOMS

, which are

    clinically indistinguishable from the classic form
    SYMPTOMS

.

use of oestrogens
stopping the medication

Angioedema
hereditary angioedema
hereditary angioedema (type 3)


Acute abdominal attack of hereditary angioneurotic oedema associated with ultrasound abnormalities suggestive of acute hepatitis.

Hereditary angioneurotic oedema (HANO) is an autosomal dominant disorder caused by a deficiency of the inhibitor protein Cl-esterase. Recurrent subcutaneous and/or submucosal oedema formation is a hallmark of this disease. HANO is a rare, but potentially life-threatening disorder with a mortality around 20-30%. Acute oedematous abdominal attacks of HANO can mimic a surgical emergency; this is exemplified by the case of a 14-y-old male patient with HANO admitted for such clinical manifestations.

Diagnostic clues include ascites and abnormalities of hepatic structure visible with ultrasound during the oedematous attack. The importance of appropriate treatment is emphasized.

    Hereditary angioneurotic oedema (HANO)
    DIAGNOSIS

 is an

    autosomal dominant disorder
    GENETICS

 caused by a

    deficiency of the inhibitor protein Cl-esterase
    BIOCHEMICAL

.

    Recurrent subcutaneous and/or submucosal oedema formation
    SYMPTOMS

 is a hallmark of this disease.

    HANO
    DIAGNOSIS

 is a rare, but potentially life-threatening disorder with a mortality around 20-30%.

    Acute oedematous abdominal attacks
    SYMPTOMS

 of

    HANO
    DIAGNOSIS

 can mimic a

    surgical emergency
    MEDICATION

; this is exemplified by the case of a

    14-y-old
    AGE

    male
    GENDER

 patient with

    HANO
    DIAGNOSIS

 admitted for such clinical manifestations.

Diagnostic clues include

    ascites
    SYMPTOMS

 and

    abnormalities of hepatic structure visible with ultrasound
    SYMPTOMS

 during the

    oedematous attack
    SYMPTOMS

. The importance of appropriate treatment is emphasized.

Hereditary angioneurotic oedema (HANO)
HANO
HANO
HANO


Hereditary angioedema: a rare but potentially lethal disease.

Hereditary angioedema, although uncommon, should be considered in the differential diagnosis of all patients with facial edema. In this article, we present a case of hereditary angioedema and discuss the presentation, diagnosis, and management of the disease.

    Hereditary angioedema
    DIAGNOSIS

, although uncommon, should be considered in the

    differential diagnosis
    PARACLINICAL

 of all patients with

    facial edema
    SYMPTOMS

. In this article, we present a case of

    hereditary angioedema
    DIAGNOSIS

 and discuss the presentation, diagnosis, and management of the disease.


Episodic swelling in a pregnant woman from Bangladesh: evaluation and management of angioedema in pregnancy.

Deficiencies in the C1 inhibitor protein are central to the pathogenesis of acquired and hereditary angioedema syndromes. Here, we present a case of a patient who developed recurrent episodes of angioedema during pregnancy. We discuss the evaluation of patients presenting with angioedema, describe the mechanisms by which deficiencies in C1 inhibitor contribute to the development of angioedema, and focus on the natural history and clinical management of the pregnant patient with angioedema.

    Deficiencies in the C1 inhibitor protein
    BIOCHEMICAL

 are central to the pathogenesis of

    acquired
    DIAGNOSIS

 and

    hereditary angioedema syndromes
    DIAGNOSIS

. Here, we present a case of a patient who developed

    recurrent episodes of angioedema
    SYMPTOMS

 during

    pregnancy
    DIAGNOSIS

. We discuss the evaluation of patients presenting with

    angioedema
    DIAGNOSIS

, describe the mechanisms by which

    deficiencies in C1 inhibitor
    BIOCHEMICAL

 contribute to the development of

    angioedema
    DIAGNOSIS

, and focus on the natural history and clinical management of the

    pregnant
    AGE

 patient with

    angioedema
    DIAGNOSIS

.

acquired
hereditary angioedema syndromes
pregnancy
angioedema
angioedema
angioedema


Hereditary angioedema with recurrent abdominal pain.

Hereditary angioedema is a rare disorder characterized by quantitative or qualitative deficiency of complement C1 esterase inhibitor. We report a family whose members presented with recurrent angioedema and abdominal pain; the diagnosis was confirmed by quantitative assay of C1 inhibitor. The index patient was treated with danazol and was relieved.

    Hereditary angioedema
    DIAGNOSIS

 is a rare disorder characterized by

    quantitative or qualitative deficiency of complement C1 esterase inhibitor
    BIOCHEMICAL

. We report a

    family whose members presented with recurrent angioedema
    FAMILY

 and

    abdominal pain
    SYMPTOMS

; the diagnosis was confirmed by

    quantitative assay of C1 inhibitor
    BIOCHEMICAL

. The index patient was treated with

    danazol
    MEDICATION

 and was relieved.


Spontaneous angioedema of oral cavity after dental impressions.

Maxillofacial angioedema is a rare condition encountered by the oral and maxillofacial surgeon. Its significance lies in its potential to partially or totally obstruct the upper airway secondary to acute sudden swelling. In some individuals, angioedema is hereditary; in others, it occurs spontaneously, without warning, as an allergic reaction. The case presented here documents perioral angioedema secondary to dental impressions and reviews its management.

    Maxillofacial angioedema
    DIAGNOSIS

 is a rare condition encountered by the

    oral and maxillofacial surgeon
    PARACLINICAL

. Its significance lies in its potential to

    partially or totally obstruct the upper airway
    SYMPTOMS

 secondary to

    acute sudden swelling
    SYMPTOMS

. In some individuals,

    angioedema
    DIAGNOSIS

 is

    hereditary
    GENETICS

; in others, it occurs spontaneously, without warning, as an

    allergic reaction
    DIAGNOSIS

. The case presented here documents

    perioral angioedema secondary to dental impressions
    SYMPTOMS

 and reviews its management.

Maxillofacial angioedema
angioedema
allergic reaction


A case of hereditary angioedema associated with idiopathic hypoparathyroidism.

Hereditary angioedema is a rare autosomal dominant disease characterized by the edema of subcutaneous tissues, respiratory tract and bowel. It is caused by the deficiency of C1 esterase inhibitor. Hereditary angioedema may be associated with autoimmune diseases, such as systemic lupus erythematosus, rheumatoid arthritis, autoimmune thyroiditis and glomerulonephritis. We report a 34-year-old male patient with hereditary angioedema who developed idiopathic hypoparathyroidism. Autoimmunity seems to be an important basis of this association and it might be caused by the immune dysfunction due to decreased level of complements; nevertheless, a casual association could not be excluded. To our knowledge, this is the first report of hereditary angioedema in association with idiopathic hypoparathyroidism in the medical literature.

    Hereditary angioedema
    DIAGNOSIS

 is a

    rare autosomal dominant disease
    GENETICS

 characterized by the

    edema of subcutaneous tissues, respiratory tract and bowel
    SYMPTOMS

. It is caused by the

    deficiency of C1 esterase inhibitor
    BIOCHEMICAL

.

    Hereditary angioedema
    DIAGNOSIS

 may be associated with

    autoimmune diseases
    DIAGNOSIS

, such as

    systemic lupus erythematosus
    DIAGNOSIS

,

    rheumatoid arthritis
    DIAGNOSIS

,

    autoimmune thyroiditis
    DIAGNOSIS

 and

    glomerulonephritis
    DIAGNOSIS

. We report a

    34-year-old
    AGE

    male
    GENDER

 patient with

    hereditary angioedema
    DIAGNOSIS

 who developed

    idiopathic hypoparathyroidism
    SYMPTOMS

.

    Autoimmunity
    GENETICS

 seems to be an important basis of this association and it might be caused by the

    immune dysfunction
    BIOCHEMICAL

 due to

    decreased level of complements
    BIOCHEMICAL

; nevertheless, a casual association could not be excluded. To our knowledge, this is the first report of

    hereditary angioedema in association with idiopathic hypoparathyroidism
    DIAGNOSIS

 in the medical literature.

rare autosomal dominant disease
Autoimmunity

deficiency of C1 esterase inhibitor
immune dysfunction
decreased level of complements


[Hereditary deficiency of C1-esterase inhibitor presenting with recurrent abdominal pain].

Hereditary deficiency of C1-esterase inhibitor (C1-INH) which clinically manifests as hereditary angioedema is a rare disorder. In previously not diagnosed cases, a fatality rate of up to 30 % has been reported. The diagnosis of C1-esterase inhibitor deficiency should not be missed in patients presenting with angioedema in the face, stem or extremities. We report the case of a 17-year-old girl with recurrent abdominal pain and swelling of the hands.

    Hereditary
    GENETICS

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

 which clinically manifests as

    hereditary angioedema
    DIAGNOSIS

 is a rare disorder. In previously not diagnosed cases, a fatality rate of up to 30 % has been reported. The diagnosis of

    C1-esterase inhibitor deficiency
    BIOCHEMICAL

 should not be missed in patients presenting with

    angioedema in the face, stem or extremities
    SYMPTOMS

. We report the case of a

    17-year-old
    AGE

    girl
    GENDER

 with

    recurrent abdominal pain
    SYMPTOMS

 and

    swelling of the hands
    SYMPTOMS

.


Hereditary angioedema as a cause of transient abdominal pain.

Isolated angioedema, without urticaria or itching, occurs as a result of an inherited or acquired defect in C1 esterase inhibitor activity. Most cases of isolated angioedema are caused by one of two types of hereditary angioedema (HAE). We present a case of the much rarer type II HAE with abdominal pain as the sole presenting symptom. Hereditary angioedema should be suspected in young adults with episodic abdominal pain for which common causes have been excluded. A history of HAE or episodic abdominal pain in family members is not necessary for diagnosis.

    Isolated angioedema
    DIAGNOSIS

,

    without urticaria or itching
    NEG_FINDINGS

, occurs as a result of an

    inherited
    GENETICS

 or acquired

    defect in C1 esterase inhibitor activity
    BIOCHEMICAL

. Most cases of

    isolated angioedema
    DIAGNOSIS

 are caused by one of two types of

    hereditary angioedema (HAE)
    DIAGNOSIS

. We present a case of the much rarer

    type II HAE
    DIAGNOSIS

 with

    abdominal pain
    SYMPTOMS

 as the sole presenting symptom.

    Hereditary angioedema
    DIAGNOSIS

 should be suspected in

    young adults
    AGE

 with

    episodic abdominal pain
    SYMPTOMS

 for which

    common causes have been excluded
    NEG_FINDINGS

. A

    history of HAE
    FAMILY

 or

    episodic abdominal pain in family members
    SYMPTOMS

 is not necessary for diagnosis.

Isolated angioedema
isolated angioedema
hereditary angioedema (HAE)
type II HAE
Hereditary angioedema

without urticaria or itching
common causes have been excluded


Hemostatic analysis of a patient with hereditary angioedema undergoing coronary artery bypass grafting.

Hereditary angioedema is a disease associated with acute complement-mediated inflammation and swelling of the airway and other vital organs. This case describes the impact of hereditary angioedema and cardiopulmonary bypass on hemostasis as assessed by thrombelastography.

    Hereditary angioedema
    DIAGNOSIS

 is a disease associated with

    acute complement-mediated inflammation
    SYMPTOMS

 and

    swelling of the airway and other vital organs
    SYMPTOMS

. This case describes the impact of

    hereditary angioedema
    DIAGNOSIS

 and

    cardiopulmonary bypass
    MEDICATION

 on hemostasis as assessed by

    thrombelastography
    PARACLINICAL

.

Hereditary angioedema
hereditary angioedema


Angiooedema due to acquired deficiency of C1-esterase inhibitor associated with leucocytoclastic vasculitis.

A hereditary and an acquired type of C1-esterase inhibitor deficiency have been described. Manifestations characteristic of both forms include recurrent subcutaneous and submucosal angiooedema. Acquired C1-esterase inhibitor deficiency has been observed in association with lymphoproliferative disorders, malignancy, autoimmune diseases and infections. We report on a case with the acquired form of the disease accompanied by leucocytoclastic vasculitis. Treatment with antimalarial agents resulted in complete resolution of symptoms and signs. Furthermore, C1-esterase inhibitor concentration and activity, as well as C1 levels, all returned to normal.

A

    hereditary
    GENETICS

 and an acquired type of

    C1-esterase inhibitor deficiency
    BIOCHEMICAL

 have been described. Manifestations characteristic of both forms include

    recurrent subcutaneous and submucosal angiooedema
    SYMPTOMS

.

    Acquired C1-esterase inhibitor deficiency
    BIOCHEMICAL

 has been observed in association with

    lymphoproliferative disorders
    DIAGNOSIS

,

    malignancy
    DIAGNOSIS

,

    autoimmune diseases
    DIAGNOSIS

 and

    infections
    DIAGNOSIS

. We report on a case with the

    acquired form of the disease
    DIAGNOSIS

 accompanied by

    leucocytoclastic vasculitis
    DIAGNOSIS

. Treatment with

    antimalarial agents
    MEDICATION

 resulted in

    complete resolution of symptoms and signs
    SYMPTOMS

. Furthermore,

    C1-esterase inhibitor concentration and activity, as well as C1 levels, all returned to normal
    BIOCHEMICAL

.

lymphoproliferative disorders
malignancy
autoimmune diseases
infections
acquired form of the disease
leucocytoclastic vasculitis


Changes in splenoportal axis calibre and flow in a patient affected by hereditary angioedema.

The authors describe a case of hereditary angioedema characterised by abdominal pain accompanied by ascites. Ultrasound (US) examination performed after acute abdominal attack implied the presence of increased splenoportal axis calibre and reduced blood flow. According to the authors, this may confirm the pathogenic role of C1-inhibitor deficiency induced oedema that is capable of creating major haemodynamic involvement also of abdominal vessels. US findings of transient appearance, especially related to the specific treatment, may help physicians make early diagnosis and avoid dangerous invasive procedures resulting from incorrect diagnosis of acute abdomen.

The authors describe a case of

    hereditary angioedema
    DIAGNOSIS

 characterised by

    abdominal pain
    SYMPTOMS

 accompanied by

    ascites
    SYMPTOMS

.

    Ultrasound (US) examination
    PARACLINICAL

 performed after

    acute abdominal attack
    SYMPTOMS

 implied the

    presence of increased splenoportal axis calibre and reduced blood flow
    SYMPTOMS

. According to the authors, this may confirm the pathogenic role of

    C1-inhibitor deficiency induced oedema
    BIOCHEMICAL

 that is capable of creating

    major haemodynamic involvement also of abdominal vessels
    SYMPTOMS

. US findings of

    transient appearance
    SYMPTOMS

, especially related to the specific treatment, may help physicians make early diagnosis and avoid

    dangerous invasive procedures
    NEG_FINDINGS

 resulting from incorrect diagnosis of

    acute abdomen
    SYMPTOMS

.


Hereditary angioedema first apparent in the ninth decade during treatment with ACE inhibitor.

Hereditary angioedema ordinarily manifests itself in childhood. The development of angioedema in this disease and as a side effect of angiotensin-converting enzyme inhibitor treatment is caused by similar mechanisms.

We report a case of female patient, diagnosed with hereditary angioedema at age 90, who experienced the first attack 8 years earlier during angiotensin-converting enzyme inhibitor use.

This patient presented with her first episode of hereditary angioedema at the oldest age ever reported. A careful family history, especially for angioedema, should be taken in patients of all ages before initiating treatment with angiotensin-converting enzyme inhibitor.

    Hereditary angioedema
    DIAGNOSIS

 ordinarily manifests itself in

    childhood
    AGE

. The development of

    angioedema
    SYMPTOMS

 in this disease and as a side effect of

    angiotensin-converting enzyme inhibitor treatment
    MEDICATION

 is caused by similar mechanisms.

We report a case of

    female
    GENDER

 patient, diagnosed with

    hereditary angioedema
    DIAGNOSIS

 at

    age 90
    AGE

, who

    experienced the first attack 8 years earlier
    SYMPTOMS

 during

    angiotensin-converting enzyme inhibitor use
    MEDICATION

.

This patient presented with

    her
    GENDER

 first episode of

    hereditary angioedema
    DIAGNOSIS

 at the

    oldest age
    AGE

 ever reported. A careful

    family history
    PARACLINICAL

, especially for

    angioedema
    DIAGNOSIS

, should be taken in patients of

    all ages
    AGE

 before initiating

    treatment with angiotensin-converting enzyme inhibitor
    MEDICATION

.

Hereditary angioedema
hereditary angioedema
hereditary angioedema
angioedema


[Sonography in hereditary angioedema: typical findings demonstrated by the example of 3 cases].

Hereditary angioedema (HAE) is a hereditary disorder (deficiency of C1 esterase inhibitor) with spontaneous cutaneous and subcutaneous edemas, which involve the gastrointestinal tract in 50 - 75 %. Recurrent abdominal pain attacks in younger patients with an ultrasonographic evidence of aszites (up to 1 - 2 litres are frequent), should always let think of a HAE. Additionally in one female patient we found pleural effusion repeatedly during the episodes. HAE typically shows segments of GI-tract with a marked wall thickening. In our patients stomach (2 x), small bowel (2 x) and colon (1 x) were involved. Obstruction of the lumen by the edema may cause vomiting or ileus. By means of high-resolution sonography we could show for the first time that only mucosal and submucosal layer were affected, the L. muscularis propria was preserved. Characteristic was a hypoechoic thickening of the interior layers of the wall: In one patient we found anechoic lacunae within the mucosal layer, probably corresponding to a bullous edema. An accurate ultrasonic examination enables a reliable judgement of the severity level of HAE. It can contribute in this way to the decision whether the application of C1-INH-concentrate is necessary or not.

    Hereditary angioedema (HAE)
    DIAGNOSIS

 is a

    hereditary disorder
    GENETICS

 (

    deficiency of C1 esterase inhibitor
    BIOCHEMICAL

) with

    spontaneous cutaneous and subcutaneous edemas
    SYMPTOMS

, which

    involve the gastrointestinal tract
    SYMPTOMS

 in 50 - 75 %.

    Recurrent abdominal pain attacks
    SYMPTOMS

 in

    younger
    AGE

 patients with an

    ultrasonographic evidence of aszites (up to 1 - 2 litres are frequent)
    SYMPTOMS

, should always let think of a

    HAE
    DIAGNOSIS

. Additionally in one

    female
    GENDER

 patient we found

    pleural effusion
    SYMPTOMS

 repeatedly during the episodes.

    HAE
    DIAGNOSIS

 typically shows

    segments of GI-tract with a marked wall thickening
    SYMPTOMS

. In our patients

    stomach (2 x), small bowel (2 x) and colon (1 x) were involved
    SYMPTOMS

.

    Obstruction of the lumen by the edema
    SYMPTOMS

 may cause

    vomiting
    SYMPTOMS

 or

    ileus
    SYMPTOMS

. By means of

    high-resolution sonography
    PARACLINICAL

 we could show for the first time that

    only mucosal and submucosal layer were affected
    SYMPTOMS

,

    the L. muscularis propria was preserved
    SYMPTOMS

. Characteristic was a

    hypoechoic thickening of the interior layers of the wall
    SYMPTOMS

: In one patient we found

    anechoic lacunae within the mucosal layer
    SYMPTOMS

, probably corresponding to a

    bullous edema
    SYMPTOMS

. An accurate

    ultrasonic examination
    PARACLINICAL

 enables a reliable judgement of the severity level of

    HAE
    DIAGNOSIS

. It can contribute in this way to the decision whether the

    application of C1-INH-concentrate
    MEDICATION

 is necessary or not.


A new type of acquired C1 inhibitor deficiency associated with systemic lupus erythematosus.

Acquired C1 inhibitor (C1-INH) deficiency with consequent angioedema is a rare condition that may indicate an underlying lymphoproliferative disorder. The defect is caused by increased catabolism, which is often associated with the presence of serum autoantibodies to C1-INH. The present report describes 3 patients with systemic lupus erythematosus who developed typical symptoms of acquired angioedema, characterized by recurrent swelling of subcutaneous and mucous tissues. The 3 patients demonstrated a major classical pathway-mediated complement consumption, with very low levels of C3 antigen and decreased levels of C1-INH antigen. Neither antibodies to C1-INH nor associated lymphoproliferative disease was found. No patient had clinical and biologic signs of lupus activity at the time the angioedema occurred. All patients were treated with steroids and exhibited a good response, without relapse of angioedema and with normalization of plasma levels of C1-INH. In lupus patients who present with an angioedema syndrome, acquired or hereditary angioedema must be sought by examining parameters of the classical pathway and levels of C1-INH. Our observations suggest the existence of a new form of acquired C1-INH deficiency associated with a major classical pathway-mediated complement consumption and systemic autoimmunity.

    Acquired C1 inhibitor (C1-INH) deficiency
    BIOCHEMICAL

 with consequent

    angioedema
    SYMPTOMS

 is a rare condition that may indicate an underlying

    lymphoproliferative disorder
    DIAGNOSIS

. The defect is caused by

    increased catabolism
    BIOCHEMICAL

, which is often associated with the presence of

    serum autoantibodies to C1-INH
    BIOCHEMICAL

. The present report describes 3 patients with

    systemic lupus erythematosus
    DIAGNOSIS

 who developed typical symptoms of

    acquired angioedema
    SYMPTOMS

, characterized by

    recurrent swelling of subcutaneous and mucous tissues
    SYMPTOMS

. The 3 patients demonstrated a

    major classical pathway-mediated complement consumption
    BIOCHEMICAL

, with

    very low levels of C3 antigen
    BIOCHEMICAL

 and

    decreased levels of C1-INH antigen
    BIOCHEMICAL

.

    Neither antibodies to C1-INH nor associated lymphoproliferative disease was found
    NEG_FINDINGS

.

    No patient had clinical and biologic signs of lupus activity
    NEG_FINDINGS

 at the time the

    angioedema
    SYMPTOMS

 occurred. All patients were

    treated with steroids
    MEDICATION

 and exhibited a good response,

    without relapse of angioedema
    NEG_FINDINGS

 and with

    normalization of plasma levels of C1-INH
    BIOCHEMICAL

. In

    lupus
    DIAGNOSIS

 patients who present with an

    angioedema syndrome
    DIAGNOSIS

,

    acquired
    DIAGNOSIS

 or

    hereditary angioedema
    DIAGNOSIS

 must be sought by examining

    parameters of the classical pathway
    BIOCHEMICAL

 and

    levels of C1-INH
    BIOCHEMICAL

. Our observations suggest the existence of a new form of

    acquired C1-INH deficiency
    BIOCHEMICAL

 associated with a

    major classical pathway-mediated complement consumption
    BIOCHEMICAL

 and

    systemic autoimmunity
    SYMPTOMS

.

lymphoproliferative disorder
systemic lupus erythematosus
lupus
angioedema syndrome
acquired
hereditary angioedema


[Vibratory angioedema].

Vibratory angioedema is a rare form of physical urticaria. This entity can be an hereditary autosomal dominant disorder or an acquired sporadic disease. Immediate and delayed forms have been reported.

A 34-year-old woman was referred to us for a vibratory angioedema induced by mountain biking. Despite her handicap, she could provoke a clinical tolerance with disappearance of pruritus but not of erythema and edema if she continued her physical effort. Diagnosis was confirmed with a vibratory stimulus using a Vortex for 5 minutes. The realization of a controlled vibratory stimuli among 20 volunteers induced a positive response in 7 cases (35 p. 100).

These results raise the problem of the specificity of the test but also point out the possible physiological response of the body to intense vibratory stimulations.

    Vibratory angioedema
    DIAGNOSIS

 is a rare form of

    physical urticaria
    DIAGNOSIS

. This entity can be an

    hereditary autosomal dominant disorder
    GENETICS

 or an

    acquired sporadic disease
    GENETICS

. Immediate and delayed forms have been reported.

A

    34-year-old
    AGE

    woman
    GENDER

 was referred to us for a

    vibratory angioedema
    SYMPTOMS

 induced by

    mountain biking
    MEDICATION

.

    Despite her handicap
    NEG_FINDINGS

,

    she
    GENDER

 could provoke a

    clinical tolerance
    SYMPTOMS

 with

    disappearance of pruritus
    SYMPTOMS

 but

    not of erythema and edema
    NEG_FINDINGS

 if she

    continued her physical effort
    MEDICATION

. Diagnosis was confirmed with a

    vibratory stimulus using a Vortex for 5 minutes
    MEDICATION

. The realization of a

    controlled vibratory stimuli
    MEDICATION

 among 20 volunteers induced a positive response in 7 cases (35 p. 100).

These results raise the problem of the specificity of the test but also point out the possible

    physiological response of the body to intense vibratory stimulations
    SYMPTOMS

.

hereditary autosomal dominant disorder
acquired sporadic disease

Despite her handicap
not of erythema and edema


[Hereditary angioedema in organs of the head and neck as an indication for emergency tracheotomy].

Angioedema (angioneurotic edema) is often associated with urticaria, but edema is located deeper in the skin and mucous membranes. There are limited, painless, soft and medium hard swellings. Lack of general symptoms is evident, except if mucous membranes of the gastrointestinal system are affected and pain appears. It is particularly dangerous if located in the brain or larynx when there is a risk of suffocation. In 20% cases with laryngeal involvement intubation or tracheotomy is necessary.

This is a case report of a patient hospitalized at the Clinic, having a swelling at the front side of neck, lower lip and difficulties with deglutition. Occasionally the patient had similar difficulties in the main joints whereas periodical swellings are characteristic for his father, sister, and sister's daughter. Clinical check-up indicated a greyish swelling, of the oropharynx structure, with 1 cm respiratory space. Larynx was not visible due to swelling of epiglottis. The patient received intravenous steroid therapy, followed by infusion of physiologic solution with calcium. As his condition become very bad half an hour after admittance he was transported to the operation room. He received adrenaline but within the excepted time his respiration did not improve. Emergency tracheotomy was performed and afterwards his respiration and skin colour became normal. Regarding family anamnesis, clinical picture and laboratory results, hereditary angioedema was diagnosed.

Hereditary angioedema is a rare form of angioedema which is an inherited autosomal dominant disorder. The disease is a result of deficit in C esterase inhibitor, which is a serum glycoprotein of SERPIN family (serum protease inhibitors), that is usually synthesized in hepatocytes. All the diseased are heterozygotes. There are two genetic variantions of the disease: I--patients with decreased quantity of inhibitor level in serum due to decreased synthesis and II--patients that have normal protein concentrations, but with abnormal protein, which is functionally inactive. Laryngeal edema can very soon cause narrowing of respiratory space, and if tracheotomy is not performed on time, suffocation occurs. Tracheotomy is one of the most urgent surgical interventions with the purpose to make patient's breathing easier to prevent suffocation and sometimes to save thr patient from certain death.

In differential diagnosis of laryngeal edema, hereditary angioedema should be considered. Therapy of acute hereditary angioedema attacks should involve antihistamines, corticosteroids and adrenaline, as well as administration of fresh frozen plasma or infusion of C 1 inhibitor concentrate. Hereditary angioedema of the head and neck causing airway obstruction, is an indication for emergency tracheotomy.

    Angioedema (angioneurotic edema)
    DIAGNOSIS

 is often associated with

    urticaria
    DIAGNOSIS

, but

    edema is located deeper in the skin and mucous membranes
    SYMPTOMS

. There are

    limited, painless, soft and medium hard swellings
    SYMPTOMS

.

    Lack of general symptoms
    NEG_FINDINGS

 is evident, except if

    mucous membranes of the gastrointestinal system are affected
    SYMPTOMS

 and

    pain appears
    SYMPTOMS

. It is particularly dangerous if

    located in the brain or larynx
    SYMPTOMS

 when there is a risk of

    suffocation
    SYMPTOMS

. In 20% cases with

    laryngeal involvement
    SYMPTOMS

    intubation or tracheotomy
    MEDICATION

 is necessary.

This is a case report of a patient hospitalized at the Clinic, having a

    swelling at the front side of neck, lower lip
    SYMPTOMS

 and

    difficulties with deglutition
    SYMPTOMS

. Occasionally the patient had

    similar difficulties in the main joints
    SYMPTOMS

 whereas

    periodical swellings
    SYMPTOMS

 are characteristic for his

    father, sister, and sister's daughter
    FAMILY

.

    Clinical check-up
    PARACLINICAL

 indicated a

    greyish swelling, of the oropharynx structure, with 1 cm respiratory space
    SYMPTOMS

.

    Larynx was not visible
    NEG_FINDINGS

 due to

    swelling of epiglottis
    SYMPTOMS

. The patient received

    intravenous steroid therapy
    MEDICATION

, followed by

    infusion of physiologic solution with calcium
    MEDICATION

. As his

    condition become very bad
    SYMPTOMS

 half an hour after admittance he was

    transported to the operation room
    MEDICATION

.

    He
    GENDER

 received

    adrenaline
    MEDICATION

 but within the excepted time his

    respiration did not improve
    NEG_FINDINGS

.

    Emergency tracheotomy
    MEDICATION

 was performed and afterwards his

    respiration and skin colour became normal
    NEG_FINDINGS

. Regarding

    family anamnesis
    PARACLINICAL

, clinical picture and

    laboratory results
    PARACLINICAL

,

    hereditary angioedema
    DIAGNOSIS

 was diagnosed.

    Hereditary angioedema
    DIAGNOSIS

 is a rare form of

    angioedema
    DIAGNOSIS

 which is an

    inherited autosomal dominant disorder
    GENETICS

. The disease is a result of

    deficit in C esterase inhibitor, which is a serum glycoprotein of SERPIN family (serum protease inhibitors)
    BIOCHEMICAL

, that is usually synthesized in

    hepatocytes
    BIOCHEMICAL

. All the diseased are

    heterozygotes
    GENETICS

. There are two genetic variantions of the disease: I--patients with

    decreased quantity of inhibitor level in serum due to decreased synthesis
    BIOCHEMICAL

 and II--patients that have

    normal protein concentrations
    BIOCHEMICAL

, but with

    abnormal protein, which is functionally inactive
    BIOCHEMICAL

.

    Laryngeal edema
    SYMPTOMS

 can very soon cause

    narrowing of respiratory space
    SYMPTOMS

, and if

    tracheotomy
    MEDICATION

 is not performed on time,

    suffocation
    SYMPTOMS

 occurs.

    Tracheotomy
    MEDICATION

 is one of the most urgent

    surgical interventions
    MEDICATION

 with the purpose to make patient's breathing easier to

    prevent suffocation
    SYMPTOMS

 and sometimes to save thr patient from

    certain death
    SYMPTOMS

.

In

    differential diagnosis
    PARACLINICAL

 of

    laryngeal edema
    SYMPTOMS

,

    hereditary angioedema
    DIAGNOSIS

 should be considered. Therapy of

    acute hereditary angioedema attacks
    DIAGNOSIS

 should involve

    antihistamines, corticosteroids and adrenaline
    MEDICATION

, as well as

    administration of fresh frozen plasma or infusion of C 1 inhibitor concentrate
    MEDICATION

.

    Hereditary angioedema of the head and neck
    DIAGNOSIS

 causing

    airway obstruction
    SYMPTOMS

, is an indication for

    emergency tracheotomy
    MEDICATION

.

inherited autosomal dominant disorder
heterozygotes