History Thrombophilia

rudolf virchow, german pathologist distinguished various causes of thrombosis, , work led development of thrombophilia concept.

german physician rudolf virchow categorized abnormalities in consistency of blood factor in development of thrombosis in 1856. exact nature of these abnormalities remained elusive until first form of thrombophilia, antithrombin deficiency, recognized in 1965 norwegian hematologist olav egeberg. protein c deficiency followed in 1981, when described researchers scripps research institute , u.s. centers of disease control. protein s deficiency followed in 1984, described researchers @ university of oklahoma.

antiphospholipid syndrome described in full in 1980s, after various previous reports of specific antibodies in people systemic lupus erythematosus , thrombosis. syndrome attributed british rheumatologist graham r.v. hughes, , referred hughes syndrome reason.

the more common genetic thrombophilias described in 1990s. many studies had indicated many people thrombosis showed resistance activated protein c. in 1994 group in leiden, netherlands, identified common underlying defect—a mutation in factor v made resistant action of activated protein c. defect called factor v leiden, genetic abnormalities typically named after place discovered. 2 years later, same group described common mutation in prothrombin gene caused elevation of prothrombin levels , mild increase in thrombosis risk.

it suspected other genetic abnormalities underlying familial thrombosis in future discovered through studies of entire genetic code, looking small alternations in genes.