Hereditary angioedema with normal C1 inhibitor: clinical characteristics and treatment response with plasma-derived human C1 inhibitor concentrate (Berinert®) in a French cohort

• Published in: EJD. European journal of dermatology 2017-04, Vol.27 (2), p.155-159
• Main Authors: Bouillet, Laurence, Boccon-Gibod, Isabelle, Gompel, Anne, Floccard, Bernard, Martin, Ludovic, Blanchard-Delaunay, Claire, Launay, David, Fain, Olivier
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Angioedemas, Hereditary - blood; Angioedemas, Hereditary - drug therapy; Angioedemas, Hereditary - genetics; Complement C1 Inhibitor Protein - adverse effects; Complement C1 Inhibitor Protein - metabolism; Complement C1 Inhibitor Protein - therapeutic use; Dermatology; Factor XII - genetics; Female; France; Humans; Male; Medicine; Medicine & Public Health; Mutation; Retrospective Studies; Therapy; Treatment Outcome; Young Adult
• ISSN: 1167-1122; 1952-4013
• DOI: 10.1684/ejd.2016.2948

Background Hereditary angioedema (HAE) is a rare genetic disorder characterised by episodes of swelling without urticaria. Berinert® (CSL Behring) is a plasma-derived human C1 inhibitor (C1-INH) concentrate, approved for the treatment of HAE with C1-INH deficiency (C1-INHHAE), however, it is often used off-label in Europe to treat HAE with normal C1-INH. Objectives To report the clinical characteristics of patients with HAE with normal C1-INH (with F12 gene mutation; FXIIHAE) or of unknown origin (U-HAE), and their response to Berinert®. Materials & methods Data from 2007 to 2016 (obtained retrospectively from the French Cohort BeRinert Angioedème [COBRA] registry ofHAE patients with everyday use of Berinert®) were analysed; no control group was included. Diagnostic criteria for FXII-HAE and U-HAE included a normal C1-INH antigenic level and function and refractoriness to highdose antihistamines. For FXII-HAE, diagnosis also included F12 gene mutation, and U-HAE a positive family history for the disease. Results To date, 28 patients with FXII-HAE or U-HAE were identified (mean age: 27 years; first angioedema attack at 19.8 years; 85.7% female) with 78 documented Berinert®-treated attacks, the majority occurring in the laryngeal and abdominal regions. Efficacy assessment of Berinert® was available for 38 of 78 documented Berinert®-treated attacks; 22 improved within 60 minutes of treatment initiation, nine within 60- 180 minutes, four after 180 minutes, and three showed no improvement. No severe or serious adverse effects were reported. Conclusion Data to date suggest that Berinert® may be a safe and efficacious treatment option for the majority of HAE patients.