背景:TAFRO综合征是一种全身性炎症性疾病,表现为血小板减少症(t),anasarca(a),发烧(f),网织蛋白骨髓纤维化/肾功能不全(r),和器官肿大(o),并被认为是特发性多中心Castleman病(iMCD)的独特临床亚型。这种综合征引起的临床表现类似于结缔组织疾病或自身免疫性疾病。
方法:一名中国年轻女性,最初表现为关节痛,雷诺现象,全身性水肿,抗小核核糖核蛋白颗粒抗体阳性被诊断为混合性结缔组织病。肾活检显示血栓性微血管病变。骨髓涂片显示骨髓增生,活检提示怀疑轻链限制性表达,巨核细胞增殖,和中度至重度骨髓纤维化。进行了淋巴结活检,组织病理学发现与混合型Castleman病的亚型一致。常规化疗后临床症状缓解。
方法:经过以上检查结果和临床表现,最终诊断为TAFRO综合征.
方法:她开始用硼替佐米化疗,环磷酰胺,还有地塞米松.
结果:化疗后,血小板减少症等症状,血尿和蛋白尿消失,淋巴结肿大和VEGF水平下降,骨髓纤维化缓解。
结论:我们的病例说明了第一例混合性结缔组织病和iMCD-TAFRO综合征的共同特征。细胞因子可能在iMCD-TAFRO综合征和全身性自身免疫性疾病的共同致病性中起作用。直接针对炎症因子如糖皮质激素或化疗的治疗具有重要的治疗意义。
BACKGROUND: 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.
METHODS: 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.
METHODS: After above examination results and clinical manifestations, the final diagnoses was TAFRO syndrome.
METHODS: The she was started on chemotherapy with bortezomib, cyclophosphamide, and dexamethasone.
RESULTS: After chemotherapy, symptoms such as thrombocytopenia, hematuria and proteinuria disappeared, lymphadenopathy and VEGF level decreased, and bone marrow fibrosis relieved.
CONCLUSIONS: 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.