CONTEXT: Factor V Leiden (FVL) is the most common heritable cause of venous thrombosis. It is caused by a single nucleotide substitution resulting in an R506Q missense mutation, resulting in factor V resistance to activated protein C (APC) inactivation. Carriers of FVL have an increased susceptibility to venous thrombosis, which is further increased in the presence of other genetic or environmental risk factors. OBJECTIVE: To review the biology, clinical findings, laboratory detection methods, and screening recommendations for patients with the FVL mutation. DATA SOURCES: PubMed review of published literature and online information. CONCLUSIONS: FVL remains an important heritable cause of hypercoagulability since its discovery more than 10 years ago. Clinical suspicion should be high in cases of unexplained venous thrombosis. APC resistance and FVL mutation can be diagnosed with high sensitivity and specificity with use of clotting time-based functional assays and genetic assays, respectively, allowing for evidence-guided clinical decision making regarding the benefit of long-term anticoagulation.
CONTEXT: Factor V Leiden (FVL) is the most common heritable cause of venous thrombosis. It is caused by a single nucleotide substitution resulting in an R506Q missense mutation, resulting in factor V resistance to activated protein C (APC) inactivation. Carriers of FVL have an increased susceptibility to venous thrombosis, which is further increased in the presence of other genetic or environmental risk factors. OBJECTIVE: To review the biology, clinical findings, laboratory detection methods, and screening recommendations for patients with the FVL mutation. DATA SOURCES: PubMed review of published literature and online information. CONCLUSIONS:FVL remains an important heritable cause of hypercoagulability since its discovery more than 10 years ago. Clinical suspicion should be high in cases of unexplained venous thrombosis. APC resistance and FVL mutation can be diagnosed with high sensitivity and specificity with use of clotting time-based functional assays and genetic assays, respectively, allowing for evidence-guided clinical decision making regarding the benefit of long-term anticoagulation.
Authors: Grażyna Adler; Jeremy S C Clark; Beata Loniewska; Ewa Czerska; Nermin N Salkic; Andrzej Ciechanowicz Journal: Bosn J Basic Med Sci Date: 2012-05 Impact factor: 3.363
Authors: G Adler; M Parczewski; E Czerska; B Loniewska; M Kaczmarczyk; J Gumprecht; W Grzeszczak; A Szybinska; M Mossakowska; A Ciechanowicz Journal: J Appl Genet Date: 2010 Impact factor: 3.240
Authors: Francesco Parmeggiani; Donato Gemmati; Ciro Costagliola; Francesco Semeraro; Paolo Perri; Sergio D'Angelo; Mario R Romano; Katia De Nadai; Adolfo Sebastiani; Carlo Incorvaia Journal: Mol Diagn Ther Date: 2011-08-01 Impact factor: 4.074