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Overview Introduction Hypercoagulable state/thrombophilia from mutated factor V Epidemiology Most common cause of inherited hypercoagulable states Most common in Caucasians etiology Pathogenesis review of anticoagulation pathway protein C (with protein S as a co-factor) inactivates factors V and VIII mutated factor V lacks cleavage site for activated protein C factor V remains active in coagulation pathway defective anticoagulation thrombosis Genetics factor V Leiden mutation incomplete autosomal dominant heterozygous risk of thrombosis homozygous higher risk of thrombosis Presentation most common DVT, recurrent less common PE central retinal vein occlusion hepatic vein thrombosis if pregnant higher risk of miscarriage STUDIES Normal PT/PTT Differential Diagnosis Malignancy Antiphospholipid syndrome Antithrombin deficiency presents with no change in PTT with heparin administration treat with direct thrombin inhibitor (or very high dose heparin) followed by warfarin Diagnosis Activated protein C resistance assay (factor V Leiden specific functional assay) if positive, confirm with DNA testing Treatment Prevention avoid external causes of hypercoagulability OCPs hormone replacement therapy If thrombosis If pregnant, give thromboprophylaxis LMWH warfarin contraindicated Long-term antithrombotic therapy not recommended Complications Miscarriage Thrombosis Prognosis Mortality not affected Create a free account or log in to see the cards.

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