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

European Journal of Dermatology volume 27, pages 155–159 (2017)Cite this article

Abstract

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.

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Authors and Affiliations

  1. Univ. Grenoble Alpes, Joint unit 1036 INSERM-CEA-CNRS, CREAK, Department of Internal Medicine, PPMGC, CHU Grenoble, Grenoble, France

    Laurence Bouillet & Isabelle Boccon-Gibod

  2. National Reference Centre for Angioedema, CREAK, Grenoble, France

    Laurence Bouillet, Isabelle Boccon-Gibod, Anne Gompel, Bernard Floccard, Ludovic Martin, Claire Blanchard-Delaunay, David Launay & Olivier Fain

  3. Endocrine Gynaecology, Paris Descartes University, University Hospital Centre, Paris, France

    Anne Gompel

  4. Intensive Care Unit, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France

    Bernard Floccard

  5. Department of Dermatology, CHU Angers, Angers, France

    Ludovic Martin

  6. Department of Internal Medicine, CH Niort, Niort, France

    Claire Blanchard-Delaunay

  7. Université Lille Nord de France, Department of Internal Medicine, National Reference Centre for Autoimmune and Systemic Rare Diseases, Hospital Claude-Huriez, CHRU Lille, Lille, France

    David Launay

  8. Department of Internal Medicine, Saint Antoine University Hospital, AP-HP, Paris, France

    Olivier Fain

Authors
  1. Laurence Bouillet
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  2. Isabelle Boccon-Gibod
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  3. Anne Gompel
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  4. Bernard Floccard
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  5. Ludovic Martin
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  6. Claire Blanchard-Delaunay
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  7. David Launay
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  8. Olivier Fain
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Correspondence to Isabelle Boccon-Gibod.

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Bouillet, L., Boccon-Gibod, I., Gompel, A. et al. Hereditary angioedema with normal C1 inhibitor: clinical characteristics and treatment response with plasma-derived human C1 inhibitor concentrate (Berinert®) in a French cohort. Eur J Dermatol 27, 155–159 (2017). https://doi.org/10.1684/ejd.2016.2948

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  • DOI: https://doi.org/10.1684/ejd.2016.2948

Key words

  • Berinert®
  • hereditary angioedema
  • pharmacoepidemiological
  • C1 inhibitor
  • drug safety
  • registry
  • off label