以肠系膜静脉血栓为突出表现的遗传性蛋白S缺乏症1例  

Hereditary protein S deficiency in a patient with prominent mesenteric venous thrombosis:A case report

作　　者：金银姬[1] 刘蕊[1] JIN Yinji;LIU Rui(Department of Rheumatology and Immunology,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学第三医院风湿免疫科,北京100191

出　　处：《北京大学学报（医学版）》2024年第6期1106-1109,共4页Journal of Peking University:Health Sciences

摘　　要：遗传性蛋白S缺乏症(protein S deficiency,PSD)是由PROS1基因突变引起的常染色体显性遗传病,是导致静脉血栓栓塞的常见病因。本文报道1例以肠系膜静脉血栓为突出表现的遗传性蛋白S缺乏症患者。1病例资料患者为男性,57岁,因“腹痛、双下肢水肿1个月”就诊于北京大学第三医院。1个月前无明显诱因出现腹痛,为脐周持续性胀痛。外院诊断“胃肠动力不足”,予以多潘立酮10 mg/d口服,但脐周胀痛症状进行性加重。Hereditary protein S deficiency(PSD)is an autosomal dominant disorder caused by mutations in the PROS1 gene which can cause venous thrombosis.Individuals with PSD usually present with recurrent deep vein thrombosis and/or pulmonary embolism,but thrombosis may occur at unusual sites,such as the mesenteric and portal veins.Here we report a case of hereditary protein S deficiency patient with predominant mesenteric venous thrombosis.A 57-year-old man was admitted for abdominal pain and bilateral lower limber swelling.His sister had a history of thrombotic disease.On admission,His temperature was 37.4℃,the pulse was regular,and the blood pressure was 130/79 mmHg.Abdominal examination showed right lower abdomen tenderness,rebound tenderness and suspected muscle rigidity.Abdominal computed tomography(CT)angiography found that the patient had superior mesenteric venous thrombosis(MVT)and perforation of intestine.Vascular ultrasound of lower limb indicated bilateral deep venous thrombosis.Although treatment of fasting,water restriction,parenteral nutrition solution,acid suppression,anti-biotic treatment and low molecular weight heparin for anticoagulation were given,abdominal pain were not relieved.Small intestine resection and anastomosis was done after.Pathology of intestine did not show changes indicative of vasculitis.To investigate the cause of multiple thrombosis,a work-up for hypercoagulability(protein C and S activities,antithrombin,lupus anticoagulant,anti-cardiolipin antibody,anti-β2 glycoproteinⅠantibody)was done and the result showed increased dRVVT ratio and the significantly decreased protein S levels.Anti-phospholipid syndrome(APS)was suspected because of the thrombosis and positive lupus anticoagulant,but at the time of the test the patient was on oral anticoagulants which might influence the result of lupus anticoagulant.The lupus anticoagulant was normal after discontinuing oral anticoagulants and APS was excluded.Because of his personal and family history of thrombotic disease,a hereditary thrombo

关 键 词：肠系膜静脉血栓 蛋白S缺乏 PROS1基因突变 

分 类 号：R596[医药卫生—内科学]