Functional C1-Inhibitor diagnostics in hereditary angioedema: Assay evaluation and recommendations

Ineke G.A. Wagenaar-Bos, Christian Drouet, Emel Aygören-Pursun, Konrad Bork, Christoph Bucher, Anette Bygum, Henriette Farkas, George Fust, Hanna Gregorek, C. Erik Hack, Alaco Hickey, Helen I. Joller-Jemelka, Maria Kapusta, Wolfhart Kreuz, Hilary Longhurst, Margarita Lopez-Trascasa, Kazimierz Madalinski, Jerzy Naskalski, Ed Nieuwenhuys, Denise PonardLennart Truedsson, Lilian Varga, Erik Waage Nielsen, Eric Wagner, Lorenza Zingale, Marco Cicardi, S. Marieke van Ham

Research output: Contribution to journalArticle

55 Citations (Scopus)


Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent episodes of potentially life-threatening angioedema. The most widespread underlying genetic deficiency is a heterozygous deficiency of the serine protease inhibitor C1 esterase inhibitor (C1-Inh). In addition to low C4 levels, the most important laboratory parameter for correct diagnosis of HAE or angioedema due to acquired C1-Inh deficiency is reduced C1-Inh function (fC1-Inh). No direct recommendations about the assays for fC1-Inh or sample handling conditions are available, although this would prove especially useful when a laboratory first starts to offer assays on fC1-Inh for HAE diagnosis. In the present study we evaluated the performance of fC1-Inh assays in the 15 different laboratories that are specialised in HAE diagnostics and assessed inter-laboratory variation with each laboratory using their own assays and standards. A double-blind survey was conducted using plasma/serum samples from healthy donors and HAE patients and the uniformity of HAE diagnosis was evaluated. It can be concluded that the diagnosis of fC1-Inh deficiency was made correctly in most cases in this survey. We can recommend the chromogenic assay for the determination of fC1-Inh, while the complex ELISA needs further investigation.

Original languageEnglish
Pages (from-to)14-20
Number of pages7
JournalJournal of Immunological Methods
Issue number1-2
Publication statusPublished - Sep 30 2008


  • C1-Inhibitor
  • Complement
  • Diagnostics
  • Hereditary angioedema

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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    Wagenaar-Bos, I. G. A., Drouet, C., Aygören-Pursun, E., Bork, K., Bucher, C., Bygum, A., Farkas, H., Fust, G., Gregorek, H., Hack, C. E., Hickey, A., Joller-Jemelka, H. I., Kapusta, M., Kreuz, W., Longhurst, H., Lopez-Trascasa, M., Madalinski, K., Naskalski, J., Nieuwenhuys, E., ... van Ham, S. M. (2008). Functional C1-Inhibitor diagnostics in hereditary angioedema: Assay evaluation and recommendations. Journal of Immunological Methods, 338(1-2), 14-20.