Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene

Olivier Picone,François G Brivet,René Frydman,Anne-Claire Donnadieu,Catherine Boyer-Neumann,Véronique Frémeaux-Bacchi

doi:10.1155/2010/957507

Abstract

Backgroud. Hereditary angioedema (HAE) is characterized by recurrent swelling of the skin, the abdomen (causing severe acute pain), and the airways. A recently discovered type caused by mutations in the factor XII gene (designated as HAE type III) occurs mainly in women. Estrogens may play an important role, but few obstetrical complications have been reported. Case. We report the symptoms and obstetrical complications of women in two families with HAE attributable to the p. Thr328Lys mutation in the F12 gene. Clinical manifestations included acute and severe maternal abdominal pain, with transient ascites, laryngeal edema, and fetal and neonatal deaths. Patients had normal C4 levels and a normal C1 inhibitor gene. Administration of C1-inhibitor concentration twice monthly decreased the attack rate in one mother, and its predelivery administration (1000 U) led to the delivery of healthy girls. Conclusions. Obstetricians and anesthesiologists should be aware of this rare cause of unexplained maternal ascites and in utero or fetal death associated with edema.

Highlights

Hereditary angioedema (HAE), a rare autosomal dominant disease, manifests as recurrent episodes of localized edema, which can involve the larynx and lead to upper airway obstruction and even fatal asphyxiation
A recently discovered type caused by mutations in the factor XII gene occurs mainly in women
We report the symptoms and obstetrical complications of women in two families with HAE attributable to the p

Summary

Case Report

Hereditary angioedema (HAE) is characterized by recurrent swelling of the skin, the abdomen (causing severe acute pain), and the airways. A recently discovered type caused by mutations in the factor XII gene (designated as HAE type III) occurs mainly in women. Estrogens may play an important role, but few obstetrical complications have been reported. We report the symptoms and obstetrical complications of women in two families with HAE attributable to the p. Clinical manifestations included acute and severe maternal abdominal pain, with transient ascites, laryngeal edema, and fetal and neonatal deaths. Patients had normal C4 levels and a normal C1 inhibitor gene. Obstetricians and anesthesiologists should be aware of this rare cause of unexplained maternal ascites and in utero or fetal death associated with edema

Introduction

Discussion

Findings

Several edema during pregnancies