American Journal of Hematology 41 :113-122 (1992)
Laboratory and Clinical Aspects of Inherited Thrombotic Disorders George M. Rodgers and Wayne L. Chandler Departments of Medicine and Pathology, University of Utah Medical Center, and Veterans Administration Medical Center, Salt Lake City (G.M.R.); Department of Laboratory Medicine, University of Washington, Seattle (W.L.C.)
The laboratory evaluation of patients with recurrent thrombosis is frequently frustrating, with a low diagnosticyield obtained despite extensive testing. The likelihood of reaching a diagnosis in these patients can be increased by considering diagnostic possibilities usually overlooked and by using assays optimal for their detection. This review summarizes clinical and laboratory issues important in inherited thrombotic disease and discusses practical aspects and a strategy for laboratory testing. New information is provided on the fibrinolytic disorders that may be a common cause of recurrent thrombosis. o 1992 Wiiey-Liss, Inc. Key words: antithrombin 111, protein C, protein S, fibrinolysis, homocystinuria,dysfibrinogenemia
INTRODUCTION
Laboratory evaluation of patients with thrombosis is a common problem encountered by hematologists and pathologists. Previous surveys (discussed below) suggest that inherited abnormalities predisposing to thrombosis can be identified in 8-30% of patients who have appropriate clinical features, such as a positive family history for thrombosis, and absence of other known risk factors (vascular disease, cancer, etc.). However, since acquired etiologies are more common in adults with arterial or venous thrombosis [ 11, the frequency of inherited abnormalities causing thrombosis in the adult population is probably
Laboratory and Clinical Aspects of Inherited Thrombotic Disorders George M. Rodgers and Wayne L. Chandler Departments of Medicine and Pathology, University of Utah Medical Center, and Veterans Administration Medical Center, Salt Lake City (G.M.R.); Department of Laboratory Medicine, University of Washington, Seattle (W.L.C.)
The laboratory evaluation of patients with recurrent thrombosis is frequently frustrating, with a low diagnosticyield obtained despite extensive testing. The likelihood of reaching a diagnosis in these patients can be increased by considering diagnostic possibilities usually overlooked and by using assays optimal for their detection. This review summarizes clinical and laboratory issues important in inherited thrombotic disease and discusses practical aspects and a strategy for laboratory testing. New information is provided on the fibrinolytic disorders that may be a common cause of recurrent thrombosis. o 1992 Wiiey-Liss, Inc. Key words: antithrombin 111, protein C, protein S, fibrinolysis, homocystinuria,dysfibrinogenemia
INTRODUCTION
Laboratory evaluation of patients with thrombosis is a common problem encountered by hematologists and pathologists. Previous surveys (discussed below) suggest that inherited abnormalities predisposing to thrombosis can be identified in 8-30% of patients who have appropriate clinical features, such as a positive family history for thrombosis, and absence of other known risk factors (vascular disease, cancer, etc.). However, since acquired etiologies are more common in adults with arterial or venous thrombosis [ 11, the frequency of inherited abnormalities causing thrombosis in the adult population is probably
