Thrombophilia testing: what do we think the tests mean and what should we do with the results?

摘要

Inherited thrombophilia is a genetically deter- mined tendency to thrombosis. In 1965 the first family with antithrombin deficiency was described, and for many years this was the only identifiable cause of thromobophilia. More recently, predigree and case-control studies have confirmed that the risk of venous throm- bosis is increased by deficiencies of anti- thrombin, protein C, and protein S, and by resistance to activated protein C.~3-5 Other can- didate genetic factors are included in table. 1.