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

Wagenaar-Bos, Ineke G. A.; Drouet, Christian; Aygoeren-Pursun, Emel; Bork, Konrad; Bucher, Christoph; Bygum, Anette; Farkas, Henriette; Fust, George; Gregorek, Hanna and Hack, C. Erik, et al. (2008) In Journal of Immunological Methods 338(1-2). p.14-20
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 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... (More)
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. (Less)
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publication status
published
subject
keywords
complement, C1-inhibitor, hereditary angioedema, diagnostics
in
Journal of Immunological Methods
volume
338
issue
1-2
pages
14 - 20
publisher
Elsevier
external identifiers
  • wos:000259829600003
  • scopus:51149122530
ISSN
1872-7905
DOI
10.1016/j.jim.2008.06.004
language
English
LU publication?
yes
id
33d0e278-0d55-4be4-8262-0fe838428a02 (old id 1286647)
date added to LUP
2009-01-29 15:55:37
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2017-10-01 03:59:41
@article{33d0e278-0d55-4be4-8262-0fe838428a02,
  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 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.},
  author       = {Wagenaar-Bos, Ineke G. A. and Drouet, Christian and Aygoeren-Pursun, Emel and Bork, Konrad and Bucher, Christoph and Bygum, Anette and Farkas, Henriette and Fust, George and Gregorek, Hanna and Hack, C. Erik and Hickey, Alaco and Joller-Jemelka, Helen I. and Kapusta, Maria and Kreuz, Wolfhart and Longhurst, Hilary and Lopez-Trascasa, Margarita and Madalinski, Kazimierz and Naskalski, Jerzy and Nieuwenhuys, Ed and Ponard, Denise and Truedsson, Lennart and Varga, Lilian and Nielsen, Erik Waage and Wagner, Eric and Zingale, Lorenza and Cicardi, Marco and van Ham, S. Marieke},
  issn         = {1872-7905},
  keyword      = {complement,C1-inhibitor,hereditary angioedema,diagnostics},
  language     = {eng},
  number       = {1-2},
  pages        = {14--20},
  publisher    = {Elsevier},
  series       = {Journal of Immunological Methods},
  title        = {Functional C1-inhibitor diagnostics in hereditary angioedema: Assay evaluation and recommendations},
  url          = {http://dx.doi.org/10.1016/j.jim.2008.06.004},
  volume       = {338},
  year         = {2008},
}