Renal Division, Department of Medicine, Peking University First Hospital, Beijing, China.
Institute of Nephrology, Peking University, Beijing, China.
Medicine (Baltimore). 2024 Aug 2;103(31):e39148. doi: 10.1097/MD.0000000000039148.
TAFRO syndrome is a systemic inflammatory disorder, manifesting as thrombocytopenia (t), anasarca (a), fever (f), reticulin myelofibrosis/renal insufficiency (r), and organomegaly (o), and considered as a unique clinical subtype of idiopathic multicentric Castleman disease (iMCD). Such syndrome gave rise to a clinical picture similar to that of either a connective tissue disease or an autoimmune disease.
A Chinese young female initially presenting with arthralgia, Raynaud phenomenon, generalized edema, and a positive anti-small nuclear ribonucleoprotein particle antibody was diagnosed as mixed connective tissue disease. The kidney biopsy showed thrombotic microangiopathy. Bone marrow smear showed bone marrow hyperplasia and biopsy revealed suspected light chain restricted expression, megakaryocyte proliferation, and moderate to severe bone marrow fibrosis. A lymph node biopsy was conducted and the histopathological findings were consistent with the subtype of mixed Castleman disease. The clinical symptoms were relieved after regular chemotherapy.
After above examination results and clinical manifestations, the final diagnoses was TAFRO syndrome.
The she was started on chemotherapy with bortezomib, cyclophosphamide, and dexamethasone.
After chemotherapy, symptoms such as thrombocytopenia, hematuria and proteinuria disappeared, lymphadenopathy and VEGF level decreased, and bone marrow fibrosis relieved.
Our case illustrated the first cases of shared characteristics of mixed connective tissue disease and iMCD-TAFRO syndrome. Cytokines may play a role in the shared pathogenicity of the iMCD-TAFRO syndrome and systemic autoimmune diseases. Therapy directly against inflammatory factors such as corticosteroids or chemotherapy have an important therapeutic implication.
TAFRO 综合征是一种系统性炎症性疾病，表现为血小板减少症（t）、全身性水肿（a）、发热（f）、网状纤维/肾功能不全（r）和器官肿大（o），被认为是特发性多中心 Castleman 病（iMCD）的一种独特临床亚型。这种综合征引起的临床表现类似于结缔组织病或自身免疫性疾病。
一位中国年轻女性最初表现为关节痛、雷诺现象、全身性水肿和抗小核核糖核蛋白颗粒抗体阳性，被诊断为混合结缔组织病。肾脏活检显示血栓性微血管病。骨髓涂片显示骨髓增生，活检显示疑似轻链受限表达、巨核细胞增殖和中重度骨髓纤维化。进行了淋巴结活检，组织病理学发现与混合 Castleman 病亚型一致。经过常规化疗，临床症状得到缓解。
根据上述检查结果和临床表现，最终诊断为 TAFRO 综合征。
她开始接受硼替佐米、环磷酰胺和地塞米松化疗。
化疗后，血小板减少症、血尿和蛋白尿等症状消失，淋巴结病和 VEGF 水平下降，骨髓纤维化缓解。
我们的病例说明了混合结缔组织病和 iMCD-TAFRO 综合征具有共同特征的首例病例。细胞因子可能在 iMCD-TAFRO 综合征和系统性自身免疫性疾病的共同发病机制中起作用。直接针对炎症因子（如皮质类固醇或化疗）的治疗具有重要的治疗意义。
