Functional C1-inhibitor diagnostics in hereditary angioedema: assay evaluation and recommendations.

Abstract:

: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.

journal_name

J Immunol Methods

authors

Wagenaar-Bos IG,Drouet C,Aygören-Pursun E,Bork K,Bucher C,Bygum A,Farkas H,Fust G,Gregorek H,Hack CE,Hickey A,Joller-Jemelka HI,Kapusta M,Kreuz W,Longhurst H,Lopez-Trascasa M,Madalinski K,Naskalski J,Nieuwenhuys E,P

doi

10.1016/j.jim.2008.06.004

subject

Has Abstract

pub_date

2008-09-30 00:00:00

pages

14-20

issue

1-2

eissn

0022-1759

issn

1872-7905

pii

S0022-1759(08)00209-3

journal_volume

338

pub_type

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