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Obstetrics and Gynecology International
Volume 2010, Article ID 957507, 5 pages
http://dx.doi.org/10.1155/2010/957507
Case Report

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

1Université Paris-Sud, 92141 Clamart, France
2AP-HP, Service de Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, 92141 Clamart, France
3INSERM, U 782, 92140 Clamart, France
4AP-HP, Service de Réanimation Médicale, Hôpital Antoine Béclère, 92141 Clamart, France
5INSERM, U 764, 92140 Clamart, France
6AP-HP, Service d'Hématologie Biologique, Hôpital Antoine Béclère, 92141 Clamart, France
7INSERM, U 770, 94270 Le Kremlin Bicêtre, France
8AP-HP, Département d'Immunologie, Immunologie Biologique, Hôpital Européen Georges Pompidou, Université Paris V, 75908 Paris, France
9INSERM, U 255, 75015 Paris, France

Received 4 December 2009; Revised 16 March 2010; Accepted 16 March 2010

Academic Editor: M. A. Williams

Copyright © 2010 Olivier Picone et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.