Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis

• Published in: Blood 2000-11, Vol.96 (10), p.3329-3333
• Main Authors: Simioni, Paolo, Prandoni, Paolo, Lensing, Anthonie W.A., Manfrin, Davide, Tormene, Daniela, Gavasso, Sabrina, Girolami, Bruno, Sardella, Corrado, Prins, Martin, Girolami, Antonio
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Cohort Studies; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; Factor V - genetics; Female; Follow-Up Studies; Hematologic and hematopoietic diseases; Heterozygote; Humans; Male; Medical sciences; Middle Aged; Mutation; Platelet diseases and coagulopathies; Prevalence; Prothrombin - genetics; Recurrence; Retrospective Studies; Risk Factors; Thromboembolism - epidemiology; Thromboembolism - etiology; Thromboembolism - genetics; Venous Thrombosis - epidemiology; Venous Thrombosis - etiology; Venous Thrombosis - genetics
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V96.10.3329

Carriers of a mutation in the prothrombin (clotting factor II) or factor V gene have a 2- to 4-fold greater risk for venous thromboembolism than subjects without the mutations. Whether both mutations also predispose to recurrent venous thromboembolism is unclear. Outpatients who had a first episode of proven symptomatic deep-vein thrombosis and a long-term follow-up were studied. The outcome measure was the cumulative incidence of confirmed venous thromboembolic complications. Two hundred fifty-one patients were enrolled in the study. Mean duration of follow-up was 8.3 years. The prothrombin gene mutation was demonstrated in 27 patients (prevalence, 10.8%; 95% CI, 6.9 to 14.6), and the factor V gene mutation was demonstrated in 41 patients (prevalence, 16.3%; 95% CI, 11.8 to 20.9). The cumulative incidence of venous thromboembolic complications after 10 years was 61.3% (95% CI, 35.7 to 87.9), and the hazard ratio was 2.4 (95% CI, 1.3 to 4.7; P = .004) in patients with the prothrombin gene mutation); the cumulative incidence of venous thromboembolic complications after 10 years was 55.2% (95% CI, 36.4 to 74.0), and the hazard ratio was 2.4 (95% CI, 1.4 to 4.1;P = .001) in patients with the factor V gene mutation. In comparison, the cumulative incidence of venous thromboembolic complications after 10 years was 23.1% (95% CI, 16.2 to 30.1) in patients without the mutations. Prothrombin and factor V gene mutations occur frequently in patients with venous thrombosis and are associated with an increased risk for recurrent venous thromboembolic complications