Hereditary angioedema: a family study.

ABSTRACT

Hereditary angioedema (HAE) is a rare, life-threatening, autosomal dominant disease characterized by recurrent episodes of angioedema, and caused by a deficiency of the plasma protein C1-esterase inhibitor (C1-INH). Clinical manifestation of HAE may first develop during childhood but typically presents around puberty with nonpruritic and non-pitting edema of the subcutaneous and mucosal tissues. Up to now, there has been no published report of HAE case in Taiwan. We reported a 33 year-old female patient who had recurrent painful swelling of face and hands since 27 years of age. She first suffered from sudden onset of painful swelling of the eyelids and lips in August 1998 when she was pregnant for the first time. Subsequently, similar episodes recurred for a few times. Her blood test disclosed that her C3 and C4 were 125 mg/dl and 6 mg/dl, respectively. Her uncle died of laryngeal edema at the age of 30 years. Her father and elder brother also had the similar history of recurrent facial and hand swelling. The C4 levels of her elder brother were 6 mg/dl and 13.3 mg/dl on two separate occasions. The C1-INH antigen serum level and functional assay of the index patient and ten other family members were studied. A total of seven members of the family were confirmed to have type 1 HAE as evidenced by the low C4 and low C1-INH antigenic level and functional activity. Two of the seven cases were asymptomatic up to the date of our report.