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舌部病变:巨舌症和呼吸困难作为系统性 AL(轻链)型心脏淀粉样变性的先兆。

Lingual liability: macroglossia and dyspnoea as the harbinger of systemic AL (light-chain) cardiac amyloidosis.

作者信息

Williams Michael Uncle, Murphy Caroline E, Gore Rosco Steven, Fentanes Emilio

机构信息

Department of Medicine, San Antonio Military Medical Center, Fort Sam Houston, Texas, USA.

Department of Medicine, Tripler Army Medical Center, Tripler, Hawaii, USA.

出版信息

BMJ Case Rep. 2018 Dec 22;11(1):e225923. doi: 10.1136/bcr-2018-225923.

Abstract

A 58-year-old man presented with a chief complaint of tongue indentations and discomfort. Otolaryngology treated him for oral thrush with counselling to avoid tongue biting. In addition, the patient reported dyspnoea described as a decrease in tolerance of his physical activities. Due to continued increase in tongue size and worsening dyspnoea, he underwent a tissue biopsy with findings consistent with amyloidosis. Further evaluation with a bone marrow biopsy revealed underlying multiple myeloma. Echocardiography revealed abnormal ventricular wall thickness, with a reduced left ventricular chamber size, dilated atria and Doppler findings with restrictive filling patterns indicative of cardiac amyloidosis. The patient was initiated on chemotherapy for his multiple myeloma and supportive therapy for his cardiac amyloidosis. Light-chain amyloidosis (AL) is a systemic disease characterised by irreversible deposition of amyloid in tissues throughout the body; when there is cardiac involvement, it can result in heart failure with a poor prognosis. Early diagnosis of cardiac amyloidosis can lead to prolonged survival.

摘要

一名58岁男性因舌部有压痕和不适为主诉前来就诊。耳鼻喉科对其口腔念珠菌病进行了治疗,并给予避免咬舌的建议。此外,患者报告有呼吸困难,表现为体力活动耐量下降。由于舌体持续增大且呼吸困难加重,他接受了组织活检,结果与淀粉样变性一致。骨髓活检进一步评估显示存在潜在的多发性骨髓瘤。超声心动图显示心室壁厚度异常,左心室腔大小减小,心房扩张,多普勒检查发现限制性充盈模式,提示心脏淀粉样变性。该患者开始接受针对多发性骨髓瘤的化疗以及针对心脏淀粉样变性的支持治疗。轻链淀粉样变性(AL)是一种全身性疾病,其特征是淀粉样物质在全身组织中不可逆沉积;当累及心脏时,可导致心力衰竭,预后较差。心脏淀粉样变性的早期诊断可延长生存期。

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