DVT: Factor V Leiden, a case report

We report a case of a 33-year old male admitted to our hospital with extensive lower extremity deep venous thrombosis (DVT). This patient was several days post knee arthroscopy and had a family history strongly positive for DVT. Upon testing, he was found positive for the homozygous presence of Factor V gene R506Q mutation. In inherited thrombophillia, especially in homozygous Factor V Leiden, lifelong anticoagulation treatment and screening for asymptomatic family members is controversial. Upon review and consultation, however, we recommended oral anticoagulation for life, along with genetic counseling and screening for Factor V Leiden of his three children and younger brother.