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[Hereditary angioedema: clinical and laboratory aspects of 7 cases]
A P Moschione-Castro1, J Croce, C L Diogo
1Depto. de Pediatria, Faculdade de Medicina, Universidade de São Paulo, Brasil.
Insights
Hereditary angioedema (HAE) is a rare genetic disorder caused by C1 inhibitor deficiency. Early diagnosis and treatment with danazol can effectively manage HAE symptoms and prevent complications.
Area of Science:
- Immunology
- Genetics
- Rare Diseases
Background:
- Hereditary angioedema (HAE) results from C1 inhibitor (C1INH) deficiency, inherited in an autosomal dominant pattern.
- HAE is characterized by recurrent episodes of angioedema affecting various body parts and potentially causing severe abdominal pain.
Purpose of the Study:
- To describe the clinical manifestations and laboratory findings in a cohort of HAE patients.
- To highlight the importance of considering HAE in the differential diagnosis of angioedema.
Main Methods:
- Case series describing seven patients (4M:3F, ages 12-50) with confirmed HAE.
- Clinical data collection included symptom presentation, triggers, and previous surgical interventions.
- Laboratory analysis involved complement function tests, C4 levels, and C1INH levels.
Main Results:
- Facial, hand, and foot angioedema occurred in 6/7 patients; abdominal pain in 2/7.
- Lack of identifiable triggers in 4/7 patients; trauma and menses reported in others.
- Laboratory findings showed absent complement hemolytic function, reduced C4 levels (6/7), and low C1INH levels.
- All patients achieved clinical control with danazol (100 mg/day).
Conclusions:
- HAE requires consideration in angioedema differential diagnosis for timely intervention.
- Early diagnosis of this immunodeficiency is crucial for initiating specific treatments.
- Danazol effectively manages HAE, reducing the risk of severe complications.
Abstract:
Hereditary angioedema is caused by a defect in C1 inhibitor activity (C1INH). Its occurrence is rare and it is associated with an autosomal dominant mode of inheritance. We describe seven patients (4M:3F), age from 12 to 50 years old, who are affected by hereditary angioedema; four of them belong to the same family. The main clinical manifestations were: angioedema of face, hands and feet (6/7) and abdominal pain (2/7). No triggering factors were associated with symptoms in 4/7 patients and trauma (2/7) and menses (1/7) were reported in the other three ones. One patient was submitted to laparotomy for partial intestinal resection, before diagnosis. Laboratory complement analysis revealed the absence of hemolytic function of complement, reduced C4 (6/7) and low C1INH levels. All patients received Danazol (100 mg/day) with clinical control. Hereditary angioedema has to be considered in the differential diagnosis of angioedema, since an early diagnosis of this immunodeficiency, leading to specific treatment in order to decrease the complications.