Sherer Y, Dulitzki M, Levy Y, Livneh A, Shoenfeld Y, Langevitz P
Department of Medicine B & Center of Autoimmune Diseases, Sheba Medical Center, Tel-Hashomer, and Sackler Faculty of Medicine, Tel-Aviv University, Israel.
Ann Hematol. 2002 Mar;81(3):161-3. doi: 10.1007/s00277-002-0431-1. Epub 2002 Feb 23.
Gaucher's disease is characterized by increased incidence of several autoantibodies, but autoimmune phenomena are rare in Gaucher patients. We report the first occurrence of Gaucher's disease and antiphospholipid syndrome in the same patient. A 27-year-old woman with hepatosplenomegaly and thrombocytopenia who was diagnosed as having Gaucher's disease with the genotype 1226G/1226G developed Coombs'-positive hemolytic anemia, recurrent abortions, and a high titer of IgG and IgM anticardiolipin antibodies constituting the diagnosis of antiphospholipid syndrome. A successful pregnancy outcome was achieved by combined therapy with aspirin, low-molecular-weight heparin, prednisone, and enzyme replacement therapy with imiglucerase. The possible pathogenicity of antiphospholipid antibodies found in the sera of many asymptomatic Gaucher patients should be further clarified.
戈谢病的特征是多种自身抗体的发生率增加，但自身免疫现象在戈谢病患者中很少见。我们报告了同一患者首次出现戈谢病和抗磷脂综合征。一名27岁患有肝脾肿大和血小板减少症的女性，被诊断为基因型1226G/1226G的戈谢病，出现了库姆斯试验阳性的溶血性贫血、反复流产以及高滴度的IgG和IgM抗心磷脂抗体，从而诊断为抗磷脂综合征。通过阿司匹林、低分子肝素、泼尼松联合治疗以及用伊米苷酶进行酶替代治疗，成功实现了妊娠结局。许多无症状戈谢病患者血清中发现的抗磷脂抗体的可能致病性应进一步阐明。
