Angioedema hereditario / Hereditary angioedema

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[Recurrent abdominal pain and ascites in patients suffering from congenital angioedema due to C1 inhibitor deficiency. Retrospective analysis]. / Nawracajace bóle brzucha i wodobrzusze u pacjentów z wrodzonym obrzekiem naczynioruchowym na tle niedoboru C1 inhibitora. Analiza retrospektywna.

The aim of the study was the estimation of diagnostic value abdominal ultrasonography in recurrent attacks the patients suffering from hereditary angioedema. The retrospective analysis was done in 150 patients with C1 inhibitor deficiency and abdomen attack of angioedema connected with this. In 55 patients severe 2-3 days longlasting abdomen attacks with nausea, diarrhoea and weakening were the first symptoms of the illness and causing particular diagnostic problem. In 95 remaining patients abdomen attack appeared in the course of illness manifesting external angioedema of hands, feets, face, genitalia or larynx. The frequency of abdominal attacks was different from 1-15/year. Diagnostic problem was the reason of laparotomy in 19.3% of patients which did not explain the reason of symptoms. Only in 23 % of patients US of abdomen was done, which revealed the presence of ascites, which disappeared together with abdomen symptoms. US often allowed to show the place of regional angioedema usually in the most cases in intestine wall.

[A case of difficult-to-diagnose hereditary angioedema].

Hereditary angioedema (HAE) due to an inherited C1-inhibitor (C1-INH) deficiency causes localized swelling of the oral cavity, pharynx, larynx, and face, that may be life-threatening when the larynx is involved. A 26-year-old woman seen 3 times previously for pharyngeal or laryngeal edema while in her teens, and seen this time for dyspnea was found in computed tomography (CT) to have esophageal edema and pleural effusion. Her C1-INH activity was low, yielding a definitive diagnosis of HAE for her 10-year-plus-disease history. n mind in th e f idiopathicedema. should be kept i While it is comparatively rare, HAE differential diagnosis o

[Hereditary angioedema in a 16-year-old girl]. / Wrodzony obrzek naczynioruchowy u 16-letniej dziewczynki.

The angioedema may be connected with immunological or allergic reactions, rarely appears as a genetically determined hereditary disorder. The cause of hereditary genetically determined angioedema is the defect of complement due to lack or decreased activity of Cl esterase inhibitor with the low serum C4 complement. The acquired angioedema is the most frequently the effect of lymphoproliferative and autoimmunological diseases. Hereditary angioedema was clinically characterized by subcutaneous oedema of extremities, face, neck, throat, gastrointestinal tract and brain. Tranexamic acid, sigma-aminocaproic acid and anabolic steroids- Danazol and Stanazol are administered for short- and long-term prophylaxis. Life-threatening recurrent episodes of angioedema were treated with replacement therapy. We present a case of hereditary angioedema in a 16-year-old girl admitted to hospital with massive facial oedema. The recurrence of symptoms without any effect of typical treatment was the indication for additional diagnostic tests. Diagnostic and therapeutic problems and a variable clinical course of disease were described.

Registro español de pacientes con deficiencia de C1-inhibidor / No disponible

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Angioedema hereditario: una causa infrecuente de abdomen agudo. Hallazgos en la TC y ecografía abdominal / Hereditary angioedema: an uncommon cause of acute abdomen. Abdominal computed tomography and ultrasound findings

Presentamos una causa poco común de abdomen agudo en un paciente con angioedema hereditario. Los hallazgos ecográficos y de TC descritos pueden sugerir este diagnóstico, evitando cirugías inútiles en pacientes no diagnosticados previamente de esta enfermedad (AU)

[Congenital C1-esterase inhibitor deficiency. A study of 4 Algerian families]. / Déficits congénitaux en inhibiteur de la C1-estérase. Etude de 4 familles algériennes.

We present the results of a preliminary study (the first of this kind in Algeria) in which 4 families presenting with congenital deficiency of the C1-esterase inhibitor (C1-INH) responsible for hereditary angioneurotic oedema were biologically explored. The complement fractions C1-INH, C4 and C3d were assayed in 38 subjects of the 4 families. Extending this biological evaluation to all members of theses families enabled us to identify all asymptomatic subjects (46 percent in our series). In 2 patients the congenital disease was associated with systemic lupus erythematosus. Some clinico-biological discordances are reported and discussed in the light of data from the literature.

[Congenital angioneurotic edema in an 11-year-old girl]. / Wrodzony obrzek naczynioworuchowy u 11-letniej dziewczynki.

A case of a 11-year girl with the inherited angioedema is presented. Lack of improvement following antiallergic therapy and familial history of the disease were the base of studies leading to the diagnosis of this rare syndrome. Preliminary diagnosis was confirmed by C1q inhibitor and blood level of C4 assays.

Interactions of C1(-)-inhibitors from normal persons and patients with type II hereditary angioneurotic edema with purified activated Hageman factor (factor XIIa).

Activated high molecular weight Hageman factor (75 Kd) and Hageman factor carboxy-terminal fragments both formed complexes with purified C1(-)-inhibitor, but the Hageman factor fragments appeared to have a higher affinity for the C1(-)-inhibitor than activated Hageman factor. Therefore, the clot-promoting activity of activated Hageman factor might be relatively unimpaired if Hageman factor fragments are also present. Normal C1(-)-inhibitor was cleaved by Hageman factor fragments. Clot-promoting activity was not generated in Hageman factor by exposure to Hageman factor fragments, nor was Hageman factor cleaved by Hageman factor fragments. When Hageman factor was cleaved by streptokinase-activated plasminogen, a 40 Kd fragment was released. In contrast to their interactions with other proteinases, which are blocked by normal C1(-)-inhibitor, Type II C1(-)-inhibitors from plasmas of affected members of eight different kindred with this form of hereditary angioneurotic edema all inhibited the specific coagulant activity of activated Hageman factor to some degree. They did not all form complexes with activated Hageman factor that were stable during sodium dodecyl sulfate-polyacrylamide gel electrophoresis.

[Hereditary angioedema]. / Hereditaert angioødem.

Hereditary angioedema is a rare disease, transmitted as an autosomal dominant trait. The disease usually manifests as acute subcutaneous or submucosal swellings and abdominal pain of two to five days duration. When localized to head or throat, life-threatening edema of the larynx may occur. The disease is caused by reduced amount of active C1 inhibitor. The edema is not due to an allergic reaction and medication for such is of little or no value. Prophylactic medication may be given when the attacks are frequent and ought to be given before dental extractions, intubation of the larynx, major surgery especially of the oro-pharynx, and birth. An acute attack is best treated by intravenous injection of C1 inhibitor concentrate.