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Semin Thromb Hemost
DOI: 10.1055/s-0043-1770773
Review Article

Laboratory Diagnosis of Activated Protein C Resistance and Factor V Leiden

Mehran Bahraini 
1   Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
,
Alieh Fazeli
2   Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran
,
Akbar Dorgalaleh
1   Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
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Erratum: Laboratory Diagnosis of Activated Protein C Resistance and Factor V LeidenSemin Thromb Hemost eFirst
DOI: 10.1055/s-0043-1776324

Abstract

The factor V Leiden (FVL) polymorphism is known as the most common inherited risk factor for venous thrombosis. In turn, FVL is the leading cause of an activated protein C resistance (APCR) phenotype, in which the addition of exogenous activated protein C to plasma does not result in the expected anticoagulant effect. In the routine laboratory approach to the formal diagnosis of FVL, an initial positive screening plasma-based method for APCR is often performed, and only if needed, this is followed by a confirmatory DNA-based assay for FVL. Multiple methods with accepted sensitivity and specificity for determining an APCR/FVL phenotype are commonly categorized into two separate groups: (1) screening plasma-based assays, including qualitative functional clot-based assays, for APCR, and (2) confirmatory DNA-based molecular assays, entailing several tests and platforms, including polymerase chain reaction-based and non-PCR-based techniques, for FVL. This review will describe the methodological aspects of each laboratory test and prepare suggestions on the indication of APCR and FVL testing and method selection.

Keywords

factor V Leiden - diagnosis - activated factor V - activated protein C resistance - direct oral anticoagulants


Publication History

Article published online:
10 July 2023

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