Functional C1-inhibitor diagnostics in hereditary angioedema: Assay evaluation and recommendations
Författare
Summary, in English
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 Cl 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 inmost cases in this survey. We can recommend the chromogenic assay for the determination of fC1-Inh, while the complex ELISA needs further investigation. (C) 2008 Elsevier B.V. All rights reserved.
Publiceringsår
2008
Språk
Engelska
Sidor
14-20
Publikation/Tidskrift/Serie
Journal of Immunological Methods
Volym
338
Issue
1-2
Dokumenttyp
Artikel i tidskrift
Förlag
Elsevier
Ämne
- Immunology in the medical area
Nyckelord
- complement
- C1-inhibitor
- hereditary angioedema
- diagnostics
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 1872-7905