特发性多中心Castleman病(iMCD)是一种淋巴增生性疾病,表现为继发于广泛炎症的多器官功能障碍。潜在的发病机制是由过度和不适当的细胞因子风暴驱动的。TAFRO综合征是一种罕见的iMCD亚型,以血小板减少为特征,Anasarca,骨髓纤维化,肾功能不全,和器官肿大。多器官功能障碍是这种综合征的已知结果,虽然内分泌参与尚未报告。我们介绍了一个以前健康的高加索男性的TAFRO病例,他表现出腹痛,排尿困难,弥漫性anasarca,和腹水。在介绍时,患者被发现患有急性肾损伤,血小板减少症,炎症标志物升高,白细胞介素-6(IL-6)升高,和内分泌病.经过广泛的感染和自身免疫检查,淋巴结活检证实诊断为TAFRO。病人开始服用泼尼松,利妥昔单抗,和西妥昔单抗抗IL-6治疗。治疗4个月后临床缓解,随着肾功能的正常化,血小板减少症,炎症标志物,和内分泌病.他继续使用siltuximab进行维持治疗。我们希望,这个独特的TAFRO综合征与显著内分泌病变的病例将增加围绕iMCD的越来越多的文献,并帮助临床医生更好地了解这种罕见疾病的发病机制和治疗方法。
Idiopathic multicentric Castleman disease (iMCD) is a lymphoproliferative disorder that manifests as multiorgan dysfunction secondary to widespread inflammation. The underlying pathogenesis is driven by an excessive and inappropriate cytokine storm.
TAFRO syndrome is a rare subtype of iMCD, characterized by thrombocytopenia, anasarca, myelofibrosis, renal dysfunction, and organomegaly. Multiorgan dysfunction is a known consequence of this syndrome, although endocrine involvement has yet to be reported. We present a
case of
TAFRO in a previously healthy Caucasian male who presented with abdominal pain, dysuria, diffuse anasarca, and ascites. On presentation, the patient was found to have acute kidney injury, thrombocytopenia, elevated inflammatory markers, elevated interleukin-6 (IL-6), and endocrinopathy. Following an extensive infectious and autoimmune workup, lymph node biopsy confirmed the diagnosis of
TAFRO. The patient was started on prednisone, rituximab, and anti-IL-6 therapy with siltuximab. He achieved clinical remission after 4 months of treatment, with normalization of renal function, thrombocytopenia, inflammatory markers, and endocrinopathy. He has continued on siltuximab for maintenance therapy. It is our hope that this unique
case of
TAFRO syndrome with significant endocrinopathy will add to the growing literature surrounding iMCD, and help clinicians better understand the pathogenesis and treatment of this rare disease.