[Diagnosis and treatment of inherited thrombophilia].

Inherited thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in anticoagulant factors such as antithrombin (AT), protein C (PC), and protein S (PS), or coagulation factors such as prothrombin and factor V. Patients with inherited thrombophilia often present with unusual clinical episodes of venous thromboembolism (VTE), which manifests as deep vein thrombosis or pulmonary thromboembolism in young persons (younger than 40 years), often with a positive family history of thrombosis. Moreover, the thrombosis sometimes recurs, despite anticoagulant therapy. The genetic background is known to differ between Caucasians and East Asians. Starting this April, inherited thrombophilia, AT, PC, or PS deficiency, are officially designated as intractable diseases, and the treatment of these diseases is subsidized as public expense.