Inherited thrombotic disorders: an update.
Significant advances in identification of etiologies of inherited thrombosis have been recently reported. A point mutation in coagulation factor V (factor V Leiden) results in resistance to activated protein C and probably represents the most common genetic risk factor for venous thrombosis. A metabolic disorder, homocysteinemia, is now known to be an important risk factor for both arterial and venous thrombosis. Many patients with recurrent thrombosis will have more than one genetic risk factor identified. Recognition of these new disorders should permit a diagnosis to be achieved in at least half of patients evaluated for inherited thrombosis.
Florell
S R
SR
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City 84132, USA.
Rodgers
G M
GM
D020152:Antithrombin III Deficiency; D001777:Blood Coagulation; D005165:Factor V / Q000235:genetics*; D005260:Female; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D008297:Male; D017354:Point Mutation; D011486:Protein C / Q000235:genetics*; D017293:Protein S / Q000235:genetics*; D013927:Thrombosis / Q000175:diagnosis / Q000235:genetics*
D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D006710:Homocysteine; D005165:Factor V