Hereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy

K Bork, K Wulff, J Hardt, G Witzke… - Journal of Allergy and …, 2009 - Elsevier
BACKGROUND: Hereditary angioedema caused by mutations in the factor XII gene is a
recently described disease entity that occurs mainly in women. It differs from hereditary
angioedema caused by C1 inhibitor deficiency. OBJECTIVE: To assess the clinical
symptoms, factors triggering acute attacks, and treatments of this disease. METHODS: Thirty-
five female patients with hereditary angioedema and the factor XII mutations p. Thr309Lys
and p. Thr309Arg who came from 13 unrelated families were studied. The observation …