第476例——皮疹、水肿、血小板减低、贫血

The 476th case:skin rash,edema,thrombocytopenia and anemia

患者男性,21岁。因皮疹1年、水肿2个月收入北京协和医院风湿免疫科。诊断系统性红斑狼疮(SLE),累及肾脏、心脏、血液系统,血红蛋白70 g/L,血小板计数47×10^9/L,血肌酐586μmol/L,24 h尿总蛋白8.2 g。心脏超声示心肌病变、左心室收缩功能减低、重度肺高压。予甲泼尼龙冲击(1 g,1次/d,3 d,静脉滴注)效果不佳,出现少尿、恶性高血压,外周血涂片见破碎红细胞,考虑继发血栓性微血管病(TMA)。血浆置换后可短暂缓解,但TMA仍反复发作,查血管性血友病因子裂解酶(ADAMTS 13)活性为100%,ADAMTS 13抑制物阴性。予利妥昔单抗(100 mg,1次/周,4周,静脉滴注)、甲泼尼龙(0.5 g,1次/d,3 d,静脉滴注),病情缓解。3个月随访时血红蛋白91 g/L,血小板计数223×10^9/L,血肌酐283μmol/L。SLE继发TMA时需评估ADAMT 13,其活性正常的患者治疗反应差。早期、积极治疗获得原发病缓解是关键,血浆置换有助于病情控制。

The 21-year-old male patient was admitted to the Department of Rheumatology and Immunology at Peking Union Medical College Hospital with chief complaints of"skin rash for 1 year and edema for 2 months".He was diagnosed with systemic lupus erythematosus(SLE)with renal,cardiac and hematological involvement.Remission was not achieved after glucocorticoid pulse treatment.The patient experienced oliguria,malignant hypertension,accompanied by thrombocytopenia and low serum complements,and elevated lactate dehydrogenase and serum creatinine.Schistocytes were seen in the peripheral blood smear.Thrombotic microangiopathy(TMA)secondary to SLE was diagnosed.Though plasma exchange was partially effective,TMA could not be controlled yet.The activity of serum von Willebrand factor-cleaving protease(ADAMTS 13)was 100%,and ADAMTS 13 inhibitor was negative.Finally,remission of the disease was achieved after second glucocorticoid pulse therapy and rituximab treatment.At the 3-month follow-up,the patient's condition was stable with mild anemia and normal platelet count.Patients with TMA secondary to SLE are heterogenous,while normal ADAMT 13 activity indicates poor prognosis.Early and aggressive treatment is important for disease control,and plasma exchange is helpful as a supportive care.