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.

Functional C1-Inhibitor diagnostics in hereditary angioedema : assay evaluation and recommendations / I.G.A. Wagenaar-Bos, C. Drouet, E. Aygoren-Pursun, K. Bork, C. Bucher, A. Bygum, H. Farkas, G. Fust, H. Gregorek, C.E. Hack, A. Hickey, H.I. Joller-Jemelka, M. Kapusta, W. Kreuz, H. Longhurst, M. Lopez-Trascasa, K. Madalinski, J. Naskalski, E. Nieuwenhuys, D. Ponard, L. Truedsson, L. Varga, E. W. Nielsen, E. Wagner, L. Zingale, M. Cicardi, S.M. van Ham. - In: JOURNAL OF IMMUNOLOGICAL METHODS. - ISSN 0022-1759. - 338:1-2(2008 Jul 22), pp. 14-20.

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

L. Zingale;M. Cicardi
Penultimo
;
2008

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.
Settore MED/09 - Medicina Interna
22-lug-2008
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/50290
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