Makindo Medical Notes.com

Related Subjects: Thrombophilia testing |Antiphospholipid syndrome |Protein C Deficiency |Protein S Deficiency |Prothrombin 20210A mutation |Factor V Leiden Deficiency |Antithrombin III deficiency (AT3) |Cerebral Venous Sinus thrombosis |Budd-Chiari syndrome

The disorder is most common in people who are white and of European descent. Although the association with adult stroke is unclear, there is evidence of an association with ischaemic stroke in children and young adults

About

• Heterozygote for FVL is found in 5% of population of Caucasians
• Less common in Afro-Caribbean
• VTE/CVST Risks x 4 fold risk in Heterozygotes
• VTE /CVST x 80 fold in Homozygotes

Aetiology

• The factor V Leiden mutation predisposes to thrombosis by producing resistance to the normal anticoagulant activity of protein C.

Genetics

• Heterozygote: slight increase in thrombosis
• Homozygote significant increase in thrombosis

Clinical

• Venous Thrombosis: PE DVT, Budd-Chiari, CRVO, CVST
• Family history of PE/DVT etc at a young age
• Cerebral venous sinus thrombosis
• Superficial venous thrombosis, phlebitis or thrombophlebitis
• Pregnancy: thrombosis and risk of miscarriage, pregnancy-induced high blood pressure (preeclampsia), slow fetal growth and early placental abruption.
• Arterial thrombotic stroke in young adults

Differentials

Investigations

• Factor V Leiden can be detected by DNA analysis or by coagulation tests for activated protein C resistance.

Management

• Avoid prothrombotic states - pregnancy, OCP, dehydration, smoking and manage those with LMWH etc.
• Consider Anticoagulation if risks of thrombosis > risk of anticoagulation

References