Hereditary angioedema, a disease of easily diagnosis confusion

[摘要] Hereditary angioedema is a rare genetic autosomal dominant disease with an appearance from 1:10 000 to 1:50 000, which main symptom is defined episodes of painful deforming edema with absence of pruritus, usually located in extremities. Diagnosis is based on anamnesis, physical examination and determination of C4, C1-INH, where low serum must be found. We present a male patient aged 33, who attends a consultation with disfiguring edema in the face and upper extremities reporting that in his family a grandfather presented a similar symptom as well as his two sons. The tests made reflected: C3: 87 mg / dl, C4: 10 mg / dl and functional activity of C1-INH: 33 %; other hormonal and immunological studies showed values within normal ranges. He was diagnosed as hereditary angioedema type II and received prophylactic treatment with Danazol (200 mg); the patient has now been four months without episodes.

[学科分类] 生理学与病理学