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Deep Vein Thrombosis Associated With Factor V Gene Mutation
A DGReview of :"Recurrent episodes of deep vein thrombosis in a young man"
International Angiology
08/04/2003
By Emma Hitt, PhD
Deep vein thrombosis (DVT) may result from genetic predisposition although the precise relationship between genetics, environmental factors, and DVT is unclear.
S. Giotopoulou, MD, with the University Hospital of Ioannina, Greece, and colleagues explored this issue in a case report a 34-year-old man suffering from recurrent DVT.
According to the researchers, the G1691A mutation in Factor V gene, often referred to a Factor V Leiden, is the most common inherited risk factor responsible for both first and recurrent DVT in Caucasians. In Northwestern Greece, the prevalence of the G1691A allele has been estimated at 3.3%.
The man was a smoker and was admitted to hospital because of pain, warmth, oedema, and tenderness in the left calf accompanied by Homans' sign. He was subsequently diagnosed with DVT in the left popliteal vein.
This was the patient's third episode of DVT. The second event occurred 16 years previously, and the first event had occurred 2 years before that. The patient's father had also presented with a history of DVT in the left popliteal vein 32 years before, soon after he had fractured his left tibia.
In both the father and the son, the researchers investigated the presence of a G1691A mutation in the Factor V gene and the presence of the G20210A mutation in the prothrombin gene. Both were heterozygous for the G1691A mutation but did not carry a G20210A mutation in the prothrombin gene.
"The genetic defect in Factor V gene is a lifelong risk factor for thrombosis for both patients," Dr. Giotopoulou and colleagues note. "However, in the case of the father, this abnormality was associated with a unique episode of DVT, which occurred only after a fracture of the tibia."
The two patients resided in the same house and "therefore under the same environmental conditions. The son was a smoker; however, only the G20210A mutation in the prothrombin gene has been found in association with (DVT)."
The researchers conclude that the "establishment of screening programs for the detection of risk factors predisposing to venous thromboembolism would be beneficial for the identification of patients at high risk for recurrence and would possibly help in the decision for the duration of oral anticoagulant treatment."
International Angioliology 2003;22:2.
"Recurrent episodes of deep vein thrombosis in a young man"
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