以自主神经症状为首发表现的系统性轻链淀粉样变性合并多发性骨髓瘤1例

Autonomic nervous symptoms as the initial presentation in systemic light-chain amyloidosis with multiple myeloma:a case report

免疫球蛋白轻链淀粉样变性(AL)是多种原因形成淀粉样物质在器官、组织、细胞间浸润,引起多器官功能障碍的一种疾病,神经病变可以是首发表现。文中报道的患者以自主神经症状为首发表现,表现为严重的逐渐进展的顽固性体位性低血压,逐渐出现周围神经病、消化道病变、肾脏损害和限制性心肌损害,最终患者因心室颤动猝死。检查发现血清和尿蛋白电泳可见M蛋白,直肠黏膜和皮肤活组织检查证实淀粉样变性,骨髓活组织检查浆细胞超过35%,幼稚浆细胞占23%。最终诊断为AL合并多发性骨髓瘤。

Immunoglobulin light chain amyloidosis(AL)is characterized by the extracellular tissue deposition of insoluble fibrils as a result of protein misfolding.These tissue deposits may be responsible for progressive failure in several organs.Among them,neuropathy may be presented as the first manifestation.The patient reported here presented initially with autonomic nervous system impairment,mainly characterized by severe refractory orthostatic hypotension,which became progressively invalidating,forcing the patient to bed.Moreover,since the systemic involvement of the disease,the patient also presented with diarrhea,peripheral polyneuropathy,and kidney dysfunction.Eventually,the massive myocardial depression and infiltration led to a fatal outcome due to ventricular fibrillation.Examination revealed M protein in serum and urine protein electrophoresis.Rectal mucosa and skin biopsy confirmed amyloidosis,and bone marrow biopsy showed cellular infiltration was over 35%with 23%immature plasma cells.The patient was confirmed as AL with multiple myeloma.