Humphries J E, Stouffer G A, Kelly T E, Rose C E
Department of Internal Medicine, University of Virginia School of Medicine, Box 34, Charlottesville 22908.
J Med Genet. 1991 May;28(5):349-51. doi: 10.1136/jmg.28.5.349.
A 39 year old man with Marfan syndrome presented with multiple pulmonary emboli and renal, hepatic, and splenic infarcts of unknown aetiology. The combination of thromboemboli and physical features initially suggested homocystinuria; however, laboratory examination showed no evidence for this disorder. Laboratory evaluation identified no coagulation abnormalities. This patient represents the unusual occurrence of hypercoagulability in a patient with Marfan syndrome.
一名39岁的马凡综合征男性患者出现了多发性肺栓塞以及病因不明的肾、肝和脾梗死。血栓栓塞和身体特征的组合最初提示同型胱氨酸尿症;然而,实验室检查未发现该疾病的证据。实验室评估未发现凝血异常。该患者代表了马凡综合征患者中罕见的高凝状态情况。