This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Prothrombin-related thrombophilia affects the way the blood clots. Individuals who have a thrombophilia have an increased risk to form abnormal blood clots in blood vessels. Symptoms of prothrombin-related thrombophilia include a higher than average risk to develop blood clots in the deep veins of the legs (deep venous thrombosis) and blood clots in the lungs (pulmonary embolism). Many people with prothrombin-related thrombophilia never develop abnormal blood clots. This condition is caused by a particular genetic variant (written G20210A or 20210G>A) in the F2 gene and is inherited in an autosomal dominant pattern. Prothrombin-related thrombophilia is diagnosed based on the symptoms, physical exam, blood tests, and imaging studies. The diagnosis may be confirmed by the results of genetic testing. Treatment is focused on preventing blood clots and may include blood thinning medications.
For more information, visit GARD.