What is the management for Factor V deficiency or Factor V Leiden mutation?

Management of Factor V Deficiency and Factor V Leiden Mutation

For Factor V Leiden mutation, management should focus on thromboprophylaxis based on homozygosity/heterozygosity status and family history, while Factor V deficiency requires fresh frozen plasma administration based on bleeding risk. 1

Factor V Leiden Mutation Management

Diagnosis

• DNA-based genotyping or Factor V Leiden-specific functional assay is recommended for diagnosis when clinically indicated 1
• Patients who test positive by functional assay should undergo DNA testing to distinguish heterozygotes from homozygotes 1
• DNA testing is preferred for relatives of individuals known to have Factor V Leiden 1

Risk Assessment

• Lifetime risk for venous thrombosis is approximately 10% in heterozygotes and >80% in homozygotes 1
• Factor V Leiden is considered a "known thrombogenic mutation" and is an absolute contraindication to combined oral contraceptive use 2
• Combined oral contraceptives produce a 30-fold increase in thrombotic risk when Factor V Leiden mutation is present 2

Prophylaxis During Pregnancy

• For women who are homozygous for Factor V Leiden, regardless of family history, antepartum antithrombotic prophylaxis is recommended 3, 1
• For women who are heterozygous for Factor V Leiden with a family history of VTE, antepartum antithrombotic prophylaxis is suggested 3, 1
• For women who are heterozygous for Factor V Leiden without a family history of VTE, antepartum prophylaxis is not recommended 3
• Postpartum antithrombotic prophylaxis is recommended for women who are homozygous for Factor V Leiden, regardless of family history 3

Long-term Anticoagulation

• For patients with Factor V Leiden mutation and a first episode of DVT/PE, warfarin is recommended for 6-12 months with a target INR of 2.5 (range 2.0-3.0) 4
• For patients with Factor V Leiden and idiopathic thrombosis, indefinite anticoagulation therapy is suggested 4
• The risk-benefit of indefinite anticoagulation should be reassessed periodically, considering that major bleeding risk with chronic warfarin therapy may reach 8% per year 1, 4

Factor V Deficiency Management

• Treatment primarily involves fresh frozen plasma (FFP) administration, as there is no specific Factor V concentrate available 1
• Management focuses on bleeding risk rather than thrombotic risk 1
• Unlike Factor V Leiden, Factor V deficiency is a rare bleeding disorder that requires different clinical approaches 1

Special Considerations

Family Testing

• Knowledge of Factor V Leiden status in asymptomatic relatives can guide antithrombotic prophylaxis during high-risk periods 1
• Routine screening for Factor V Leiden in asymptomatic women contemplating or using oral contraceptives is not recommended 2
• Testing is recommended for women with a history of venous thromboembolism during pregnancy or oral contraceptive use 2

Contraception

• Women with a personal history of venous thromboembolism should avoid combined oral contraceptives regardless of Factor V Leiden status 2
• Alternative contraceptive methods should be considered for women with thrombophilia 2

Travel Precautions

• For long-distance travelers with Factor V Leiden, frequent ambulation, calf muscle exercises, and properly fitted below-knee graduated compression stockings (15-30 mmHg at ankle) are recommended 2

Pitfalls and Caveats

• Avoid routine testing for Factor V Leiden in all patients with VTE; testing should be guided by clinical presentation, age at first thrombosis, and family history 1
• The presence of Factor V Leiden significantly increases the risk for renal vein thrombosis and can be devastating in kidney transplant recipients 5
• Factor V Leiden has been associated with increased risk of pregnancy complications including abruptio placentae, pre-eclampsia, fetal loss, and fetal growth restriction 6, 7
• When making decisions about long-term anticoagulation, balance the risk of recurrent thrombosis against the risk of anticoagulant-related bleeding 8