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False findings of low protein C activity in two children with Budd-Chiari syndrome and factor V Leiden mutation

False findings of low protein C activity in two children with Budd-Chiari syndrome and factor V... Haematologia , Vol. 32, No. 1, pp. 11– 15 (2002) Ó VSP 2002. Also available online - www.vsppub.com Article False Ž ndings of low protein C activity in two children with Budd-Chiari syndrome and factor V Leiden mutation FIGEN ÖZÇAY ¤ and NAMIK ÖZBEK Department of Pediatrics, Ba¸skent University Faculty of Medicine, Ankara, Turkey Abstract —Two pediatric patients with Budd-Chiari syndrome are reported, who were heterozygous for factor V Leiden mutation. The Ž rst patient was falsely diagnosed with type II protein C deŽ ciency, and the second was initially found to have decreased protein C activity based on a protein C clotting assay. Retesting by protein C chromogenic assay indicated that protein C activity was normal in both children. In patients with Budd-Chiari syndrome, low levels of protein C antigen and activity should be interpreted with caution, and within the context of factor V Leiden mutation status, parents’ results, severity of liver dysfunction, and the type of protein C assay performed in order to avoid misdiagnosing protein C deŽ ciency. Key words : Budd-Chiari syndrome; factor V Leiden mutation; protein C. INTRODUCTION Budd-Chiari syndrome (BCS) is a rare disorder that results from obstruction of hepatic venous out http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Haematologia Brill

False findings of low protein C activity in two children with Budd-Chiari syndrome and factor V Leiden mutation

Özçay, Figen; Özbek, Namik
Haematologia , Volume 32 (1): 11 – Jan 1, 2002
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Publisher
Brill
Copyright
© 2002 Koninklijke Brill NV, Leiden, The Netherlands
ISSN
0017-6559
eISSN
1568-5594
DOI
10.1163/156855902760262718
Publisher site
See Article on Publisher Site

Abstract

Haematologia , Vol. 32, No. 1, pp. 11– 15 (2002) Ó VSP 2002. Also available online - www.vsppub.com Article False Ž ndings of low protein C activity in two children with Budd-Chiari syndrome and factor V Leiden mutation FIGEN ÖZÇAY ¤ and NAMIK ÖZBEK Department of Pediatrics, Ba¸skent University Faculty of Medicine, Ankara, Turkey Abstract —Two pediatric patients with Budd-Chiari syndrome are reported, who were heterozygous for factor V Leiden mutation. The Ž rst patient was falsely diagnosed with type II protein C deŽ ciency, and the second was initially found to have decreased protein C activity based on a protein C clotting assay. Retesting by protein C chromogenic assay indicated that protein C activity was normal in both children. In patients with Budd-Chiari syndrome, low levels of protein C antigen and activity should be interpreted with caution, and within the context of factor V Leiden mutation status, parents’ results, severity of liver dysfunction, and the type of protein C assay performed in order to avoid misdiagnosing protein C deŽ ciency. Key words : Budd-Chiari syndrome; factor V Leiden mutation; protein C. INTRODUCTION Budd-Chiari syndrome (BCS) is a rare disorder that results from obstruction of hepatic venous out

Journal

Haematologia – Brill

Published: Jan 1, 2002

Keywords: factor v leiden mutation; protein c; budd-chiari syndrome

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