Factor V Leiden
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Coagulation
- Common Pathway of Coagulation
- Extrinsic Pathway of Coagulation
- Intrinsic Pathway of Coagulation
- Hemophilia A
- Hemophilia B
- Hemophilia C
- Factor V Leiden
- Antithrombin-3 Deficiency
Summary
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Key Points
- Factor V Leiden
- Pathogenesis
- Hypercoagulable state/thrombophilia from mutated factor V
- Mutated Factor V is resistant to degradation by activated protein C
- Hypercoagulable state/thrombophilia from mutated factor V
- Genetics
- Point mutation causes amino acid swap from Arginine to Glutamine at amino acid position 506 (Arg506Gln)
- Caused by DNA Guanine to Adenine swap at nucleotide position 1691 (G1691A)
- Autosomal dominant inheritance
- May exhibit a familial pattern of inheritance
- More common in Caucasians
- 1-9% are heterozygous carriers
- Most common cause of inherited hypercoagulable state
- Point mutation causes amino acid swap from Arginine to Glutamine at amino acid position 506 (Arg506Gln)
- Presentation
- Recurrent blood clots
- DVT
- PE
- Cerebral vein thrombosis
- Miscarriage in pregnancy
- Recurrent pregnancy loss
- Recurrent blood clots
- Diagnosis
- Activated protein C resistance assay (factor V Leiden specific functional assay)
- if positive, confirm with DNA testing
- Normal PT & PTT
- No changes in laboratory measurements of intrinsic or extrinsic coagulation pathways
- Normal bleeding time
- No changes in platelet plug formation
- Activated protein C resistance assay (factor V Leiden specific functional assay)
- Treatment
- Anticoagulants
- As needed for thrombotic episodes
- LMWH bridge to warfarin
- Avoid external causes of hypercoagulability
- OCPs
- hormone replacement therapy
- Anticoagulants
- Pathogenesis