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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

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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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