Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients Laurence Bouillet, MD, PhD * ; David Launay, MD, PhD y ; Olivier Fain, MD z ; Isabelle Boccon-Gibod, MD * ; Jérôme Laurent, MD x ; Ludovic Martin, MD, PhD k ; Vincent Montauban, MD { ; K. Finck { ; Stéphane Bouée, PhD # ; Anne Gompel, MD, PhD ** ; and Gisèle Kanny, MD, PhD yy ; on Behalf of the French National Reference Center for Hereditary Angioedema (CREAK) * Department of Internal Medicine, University Hospital, Grenoble, France y Department of Internal Medicine, Claude-Huriez Hospital, Lille Nord de France University, Lille, France z Department of Internal Medicine, Paris 13 University, Jean Verdier Hospital (AP-HP), Bondy, France x Service d’Immunologie Clinique, Européen Georges Pompidou Hôpital, Paris, France k Department of Dermatology, University Hospital, Angers, France { Shire Human Genetic Therapies, Boulogne-Billancourt, France # CEMKA, Bourg La Reine, France ** Department of Endocrinal Gynecology, Paris Descartes University, Hôtel-Dieu Hospital (AP-HP), Paris, France yy Departments of Internal Medicine and Clinical Immunology and Allergology, Central Hospital, Nancy, France A R T IC L E IN F O Article history: Received for publication March 8, 2013. Received in revised form July 10, 2013. Accepted for publication July 11, 2013. A B ST R AC T Background: Hereditary angioedema (HAE) is a rare and potentially life-threatening disease. New specific treatments are available. Objective: To identify patients’ features and patients’ best therapeutic option. Methods: A 1-year, multicenter, retrospective study was performed. The primary objective was to examine the clinical presentation of HAE. Secondary objectives included patient characteristics, management of HAE over 12 months, and health-related quality of life using the SF-36v2 questionnaire. Results: One hundred ninety-three patients were included, and 69.4% were women. In the 12-month period, the mean number of HAE attacks was 7.6. Among the 568 reported attacks, localizations were the abdomen (57.1%), peripheral limbs (42.5%), upper airway (7.9%), and face (6.9%); 31.6% of attacks were severe and occurred statistically more often in women (P < .02). Compared with a population of allergic patients, all age- and sex-adjusted scores were significantly lower in patients with HAE (P < .05) except for the physical component summary. Health-related quality of life negatively correlated with the annual number of attacks and was markedly altered for patients having more than 5 attacks per year (P < .05 for all dimensions). Conclusion: HAE is a severe disease that places a heavy burden on quality of life. Ó 2013 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved. Introduction Hereditary angioedema (HAE) is a rare autosomal dominant disease with an estimated prevalence of 1 per 50 to 100,000 inhabitants in Europe. 1,2 It was first reported in 1882 by Quincke 3 who described a clinical presentation of peripheral edema and abdominal pain. HAE types I and II are associated with mutations located on the SERPING1 gene coding for C1 inhibitor (C1-INH). 4 Type I is characterized by decreased synthesis of functionally intact C1-INH, resulting in lower C1-INH concentrations. Patients with type II exhibit normal or even elevated concentrations of C1- INH, but the protein is functionally defective. Patients with HAE have recurrent episodes of edema that commonly occur in the skin, Reprints: Laurence Bouillet, MD, PhD, Department of Internal Medicine, University Hospital, 38043 Grenoble Cedex 09, France; E-mail: LBouillet@chu-grenoble.fr. Disclosures: Dr Bouillet has received honoraria from Shire Human Genetic Thera- pies, CSL Behring, Pharming, and ViroPharma. Dr Launay has received honoraria from CSL Behring and ViroPharma for participation on advisory boards. Drs Fain, Boccon-Gibod, Martin, and Kanny have received honoraria from Shire Human Genetic Therapies for participation on advisory boards, as a speaker for Shire symposia, or logistical support to attend congresses. Drs Gompel and Laurent have received logistical support to attend congresses. Dr Montauban is an employee of Shire Human Genetic Therapies. Dr Bouée is an employee of CEMKA. Disclaimer: The opinions, conclusions, and interpretation of the data are those of the authors, and such perspectives do not necessarily reflect those of Shire Human Genetic Therapies. Shire Human Genetic Therapies was not involved in contacting the sites or performing the statistical analyses. An executive committee that included 1 nonvoting member (Dr Montauban) employed by Shire Human Genetic Therapies was primarily responsible for the conduct of the study. Funding Sources: This study was funded by Shire Human Genetic Therapies, Boulogne-Billancourt, France. Contents lists available at ScienceDirect 1081-1206/13/$36.00 - see front matter Ó 2013 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.anai.2013.07.012 Ann Allergy Asthma Immunol 111 (2013) 290e294