Prothrombin thrombophilia

Prothrombin Thrombophilia

Prothrombin thrombophilia, also known as Factor II mutation or prothrombin G20210A mutation, is a genetic disorder that increases the risk of developing abnormal blood clots, a condition known as thrombophilia. This condition is caused by a specific mutation in the prothrombin gene, which leads to elevated levels of prothrombin, a protein involved in blood clotting.

Genetic Basis

The prothrombin G20210A mutation is a single nucleotide polymorphism in the 3' untranslated region of the prothrombin gene (F2). This mutation results in increased production of prothrombin, leading to a hypercoagulable state. The mutation is inherited in an autosomal dominant manner, meaning that having one copy of the mutated gene can increase the risk of thrombosis.

Epidemiology

Prothrombin thrombophilia is relatively rare in the general population. The prevalence of the prothrombin G20210A mutation is estimated to be about 1-2% in Caucasian populations, with lower frequencies in other ethnic groups. It is one of the most common genetic risk factors for venous thromboembolism (VTE), along with Factor V Leiden mutation.

Clinical Manifestations

Individuals with prothrombin thrombophilia have an increased risk of developing venous thromboembolism, which includes deep vein thrombosis (DVT) and pulmonary embolism (PE). The risk of thrombosis is further increased in the presence of other risk factors such as surgery, pregnancy, oral contraceptive use, or immobilization.

Diagnosis

Diagnosis of prothrombin thrombophilia is typically made through genetic testing. A blood test can detect the presence of the G20210A mutation in the prothrombin gene. This test is often performed in individuals with a personal or family history of thrombosis, especially if they have experienced thrombosis at a young age or in unusual sites.

Management

Management of prothrombin thrombophilia involves reducing the risk of thrombosis through lifestyle modifications and, in some cases, anticoagulant therapy. Patients are advised to avoid smoking, maintain a healthy weight, and stay active. In high-risk situations, such as surgery or prolonged immobilization, prophylactic anticoagulation may be recommended.

Prognosis

The prognosis for individuals with prothrombin thrombophilia varies depending on the presence of other risk factors and the individual's history of thrombosis. With appropriate management, many individuals can lead normal lives without experiencing thrombotic events.

See Also

• Thrombophilia
• Factor V Leiden
• Venous thromboembolism

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External Links

• [Genetics Home Reference - Prothrombin thrombophilia](https://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia)
• [National Blood Clot Alliance - Prothrombin 20210 Mutation](https://www.stoptheclot.org/learn_more/prothrombin-20210-mutation/)

NIH genetic and rare disease info

• NIH info on Prothrombin thrombophilia

Prothrombin thrombophilia is a rare disease.