Department of Internal Medicine, Hospital Privado Centro Me´dico de Co´rdoba, Co´rdoba, Argentina.
Platelets. 2012;23(4):309-11. doi: 10.3109/09537104.2011.615421. Epub 2011 Sep 30.
We describe monozygotic twins with immune thrombocytopenia (ITP) associated to antiphospholipid antibodies with a dissimilar clinical expression. The first patient was diagnosed to have ITP at 63 years old and was treated with corticosteroids. She presented ulterior exacerbations of thrombocytopenia requiring intravenous immunoglobulin and subsequent treatment with rituximab. She ultimately had a favorable response without thrombotic events during follow-up. The second patient who had a history of three spontaneous abortions and endometrial adenocarcinoma in complete remission was evaluated for severe thrombocytopenia, ITP was diagnosed at the age of 63. She was treated with steroids and had a favorable response. After few months she developed deep venous thrombosis and pulmonary embolism requiring anticoagulation therapy without hemorrhagic events. Both patients were found to have antiphospholipid antibodies and HLA DR4 (DRB104) and HLA DR5 (DRB112). The association of those two entities in monozygotic twins could support the presence of common predisposing genes. However, with both patients being genotipically identical, the clinical expression was different. Those cases highlight the possibility that environmental factors may affect the expression of those disorders.
我们描述了一对患有抗磷脂抗体相关免疫性血小板减少症 (ITP) 的同卵双胞胎,其临床表现不同。第一例患者在 63 岁时被诊断为 ITP,并接受了皮质类固醇治疗。她随后出现了血小板减少症的加重,需要静脉注射免疫球蛋白和随后用利妥昔单抗治疗。在随访期间,她最终没有发生血栓事件,取得了良好的反应。第二例患者有三次自然流产和子宫内膜腺癌完全缓解的病史,因严重血小板减少症就诊,在 63 岁时被诊断为 ITP。她接受了类固醇治疗,反应良好。几个月后,她发生了深静脉血栓形成和肺栓塞,需要抗凝治疗而没有出血事件。这两名患者均发现有抗磷脂抗体和 HLA DR4(DRB104)和 HLA DR5(DRB112)。这两种实体在同卵双胞胎中的存在可能支持共同的易感基因的存在。然而,由于两名患者的基因型相同,临床表现不同。这些病例强调了环境因素可能影响这些疾病的表达。