factor V Leiden mutation (PT 20210)
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Indications
Contraindications
Storage
room temperature (includes shipping)
Principle
- the Leiden mutation affects the factor V gene (chromosome 1) mRNA base 1691 from G to A & the protein amino acid 506 from Arg to Gln
- this results in the factor V protein being resistant to inactivation by activated protein C
- the mutation is detected by amplification of exon 10 from the gene followed by RFLP analysis of an MnI site also affected by the mutation
- genetic variation can affect the analysis, thus clinical correlation is important
Clinical significance
- most common genetic risk factor for venous thrombosis
- least thrombogenic of genetic risk factors[1]
- 5-7% of the general white population is heterozygous for the factor V Leiden mutation
- most heterozygous patients are asymptomatic
- occurs in up to 15% of Greek population
- occurs almost exclusively in white population
- 20% of patients with 1st thrombosis will have the factor V Leiden mutation
- 50% of patients with recurrent spontaneous thromboses will have the factor V Leiden mutation
- heterozygotes have roughly 3 to 5-fold increased risk of thromboembolism[1][3]
- absolute 10 year risk is 0.7% if
- < 40 years of age
- BMI < 25 kg/m2
- NON smoker
- absolute 10 year risk is 10% if
- absolute 10 year risk is 0.7% if
- homozygotes have roughly 15 fold increased risk of thromboembolism[3]
- absolute 10 year risk is 3% if
- < 40 years of age
- BMI < 25 kg/m2
- NON smoker
- absolute 10 year risk is 51% if
- absolute 10 year risk is 3% if
- not a factor in atherothrombotic events (arterial thrombosis)[6]
Specimen
whole blood, lavender top. Minimal volume 3 mL
More general terms
Additional terms
- activated protein C (APC) resistance
- coagulation factor V; activated protein C cofactor; proaccelerin, labile factor; contains: coagulation factor V heavy chain; coagulation factor V light chain (F5)
Component of
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2012, 2015, 2018.
- ↑ Journal Watch 21(20):159, 2001 Middeldorp S et al, Ann Intern Med 135:322, 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11529695
- ↑ 3.0 3.1 3.2 Journal Watch 24(7):55, 2004 Juul K et al, Ann Intern Med 140:330, 2004 PMID: https://www.ncbi.nlm.nih.gov/pubmed/14996674
- ↑ ARUP Consult: Factor V Leiden (F5) R506Q Variant https://arupconsult.com/ati/factor-v-leiden-f5-r506q-variant
- ↑ ARUP laboratories Panel of 6 tests Laboratory Test Directory ARUP: http://www.aruplab.com/guides/ug/tests/0030133.jsp
Mini Panel of 2 tests: APC Resistance . Factor V Leiden by PCR Laboratory Test Directory ARUP: http://www.aruplab.com/guides/ug/tests/0030192.jsp
Factor V Leiden (F5) R506Q Mutation Laboratory Test Directory ARUP: http://www.aruplab.com/guides/ug/tests/0097720.jsp - ↑ 6.0 6.1 Mahmoodi BK et al. Association of factor V Leiden with subsequent atherothrombotic events: A GENIUS-CHD study of individual participant data. Circulation 2020 Jul 13; PMID: https://www.ncbi.nlm.nih.gov/pubmed/32654539 https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.119.045526