Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor

International Archives of Allergy and Immunology
Adriana S MorenoL K Arruda

Abstract

Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare disorder. Mutations of the gene encoding coagulation factor XII have been identified in a subset of patients with this condition. Our aim was to investigate mutations in the F12 gene in patients with HAE with normal C1-INH from Brazil. We studied 5 Brazilian families with index female patients who presented with recurrent angioedema with normal C1-INH and C4 levels. Genomic DNA was isolated from whole blood and PCR was performed. Mutations were detected by the sequencing of exon 9 of the F12 gene and allelic discrimination. The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women). Mean age at onset of symptoms among the FXII-HAE patients was 13.8 years (range 6-25 years). Recurrent abdominal pain (100%) and subcutaneous angioedema (87.5%) were the most frequent clinical presentations. Two patients presented with associated laryngeal edema. In keeping with previous observations in patients with both C1-INH-HAE and HAE with normal C1-INH, all 7 women with FXII-HAE reported triggering or worsenin...Continue Reading

Citations

Apr 27, 2016·Clinical Reviews in Allergy & Immunology·Anastasios E Germenis, Matthaios Speletas
Nov 24, 2016·Journal of the European Academy of Dermatology and Venereology : JEADV·K BorkJ Hardt
Oct 22, 2019·International Journal of Dermatology·Maria L O AlonsoMárcia G Ribeiro
Jan 15, 2021·Clinical Reviews in Allergy & Immunology·Jyoti SharmaHilary Longhurst
Jul 19, 2019·The Journal of Allergy and Clinical Immunology. in Practice·Marina M DiasL Karla Arruda

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