A hereditary angioedema screening on an index case: Turkey.

BACKGROUND: Hereditary angioedema (HAE) is characterised by recurrent episodes of angioedema and can be fatal. OBJECTIVE: The present study aimed to screen HAE. METHODS: A total of 60 individuals were screened. The frequency and severity of symptoms were scored from 0 to 8. Measurements were taken of C4 and C1 esterase inhibitor protein (C1-INH) levels. Mutation in the C1 inhibitor gene was examined in 9 patients with HAE. RESULTS: A positive correlation between the C1 esterase inhibitor protein levels and C4 level was detected in the group as a whole (p T nonsense variant was identified at the C1 esterase inhibitor gene-SERPING1-in patients with Type 1 HAE. CONCLUSION: It is well known that there is a prolonged delay in the diagnosis of HAE. The present study demonstrates that it is very important and even life-saving to screen for HAE on the basis of an index case.