摘要患者男性,17岁,因右下肢肿痛、间断皮肤巩膜黄染4年,意识障碍1d就诊于北京协和医院.病程初期先后出现下肢深静脉血栓、急性心肌梗死、足底皮肤坏死,同时存在自身免疫性溶血性贫血.本次发作表现为1周内出现发热、血小板减少、急性肾损伤、急性心肌梗死、意识障碍、梗阻性黄疸.外周血涂片可见破碎红细胞;抗磷脂抗体持续高滴度阳性;抗核抗体、抗可溶性核抗原抗体、抗中性粒细胞胞质抗体等其他自身抗体阴性,Ⅰ型血小板结合蛋白基序的解聚蛋白样金属蛋白酶13(ADAMTS13)活性0,ADAMTS13抑制物阴性.影像学示肝内胆管、胆总管扩张,胆囊明显增大,胆囊管、胆总管、肝总管狭窄.病程初期华法林抗凝、甲泼尼龙治疗有效,甲泼尼龙减量后复发,经17次单膜血浆置换、甲泼尼龙冲击、人免疫球蛋白、利妥昔单抗、抗凝治疗及积极胆汁引流,病情仍反复.后合并感染性休克,家属放弃治疗.

abstractsA 17-year-old young man with a history of swollen leg and intermittent jaundice was presented to Peking Union Medical College Hospital with acute fever and mental disturbance.He developed deep venous thrombosis,acute myocardial infarction and plantar skin necrosis during the past four years,and was presented with an acute episode of fever,thrombocytopenia,acute kidney injury,acute myocardial infarction,mental disturbance,and obstructive jaundice.Laboratory tests showed schistocytes on peripheral blood smear.High titer of antiphospholipid antibodies was detected.Strikingly,the activity of a disintegrin and metalloprotease with a thrombospondin type 1 motif,member 13 (ADAMTS13)was significantly decreased without the production of inhibitors.Images indicated stenosis of the common bile duct,common hepatic duct,and cystic duct,which caused dilation of bile ducts and the gall bladder.Corticosteroids and anticoagulation therapy were effective at first,but the disease relapsedonce the corticosteroids tapered down.Plasma exchange was administrated for 17 times,which was effective temporarily during this episode.Methylprednisolone pulse therapy,intravenous immunoglobulin,rituximab,anticoagulation therapy,and bile drainage,were all tried but still could not control the disease.The patient's family agreed to withdraw treatment after he developed septic shock.