Spectrum of diagnosis of hereditary angioedema: Seven case reports

Abstract

Hereditary angioedema (HAE) is a potentially life-threatening disorder, due to a mutation in complement one-inhibitor (C1-INH) gene, which blocks the activity of various components of complement – fibrinolytic and bradykinin control system. Our seven cases of HAE give different clinical presentations of TYPE I/II/III HAE as facial, abdominal, laryngeal, and genital involvement along with comorbidities (5 cases) such as hypothyroidism, rhinosinusitis, and hypothalamic–pituitary–adrenal suppression, and four cases have had history of recurrent abdominal attacks. Treatment with Pdc-INH concentrate and self-administrated Icatibant provides consistent and reliable efficacy in those who have had multiple successive HAE attacks, with the involvement of all body parts. However, if pdc-INH concentrate is not available, then fresh frozen plasma and androgens (Danazol) can be used in emergency. Our cases demonstrate the importance of diligent clinical and family history with special tests: C4, C1-INH quantitative, and C1-INH functional.

Keywords

• c1-inhibitor
• c3
• c4
• fresh frozen plasma
• hereditary angioedema
• hypothalamus–pituitary–adrenal axis suppression