Prothrombin gene mutation
ICD-10 D68.52 is a billable code used to indicate a diagnosis of prothrombin gene mutation.
Prothrombin gene mutation refers to a genetic alteration in the prothrombin gene (F2) that leads to an increased risk of thrombosis due to elevated levels of prothrombin, a key protein in the coagulation cascade. This mutation is associated with a condition known as prothrombin thrombophilia, which can result in venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary embolism (PE). Individuals with this mutation may present with a history of recurrent thrombosis, particularly in the absence of other risk factors. The mutation is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is sufficient to increase the risk of clotting disorders. Diagnosis typically involves genetic testing to identify the specific mutation in the prothrombin gene. Management may include anticoagulation therapy, especially in patients with a history of thrombotic events. Understanding this condition is crucial for preventing serious complications associated with abnormal clotting, and it requires careful monitoring and management in clinical practice.
Detailed documentation of genetic testing results, patient history, and treatment plans.
Patients presenting with recurrent thrombosis, family history of clotting disorders, or complications during pregnancy.
Consideration of anticoagulation therapy and monitoring for potential complications.
Comprehensive genetic testing reports and family pedigree charts.
Patients undergoing genetic counseling for thrombophilia or family members of affected individuals.
Understanding of inheritance patterns and implications for family members.
Used when genetic testing is performed to confirm prothrombin gene mutation.
Documentation of the medical necessity for genetic testing and results.
Hematology specialists should ensure comprehensive documentation of the patient's history and risk factors.
The prothrombin gene mutation increases the risk of developing blood clots, which can lead to serious conditions such as deep vein thrombosis and pulmonary embolism. Understanding this mutation is crucial for effective management and prevention of thrombotic events.
