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转甲状腺素蛋白(ATTR)心脏淀粉样变性的不寻常表现:一例以瘙痒为可能首发症状且诊断具有挑战性的病例报告。

Unusual presentation of transthyretin (ATTR) cardiac amyloidosis: A case report of pruritus as a possible initial symptom and challenging diagnosis.

作者信息

Baghaee Massood, Mohammadi Mahsa, Moradi Amir, Ghadirzadeh Erfan, Karimi Hanie, Ghorbani Parastoo, Rajabnia Mohsen, Forootan Mojgan

机构信息

Gastroenterology and Liver Diseases Research Center Research Institute for Gastroenterology and Liver Diseases, Guilan University of Medical Sciences Rasht Iran.

Atherosclerosis Research Center Jundishapur University of Medical Sciences Ahvaz Iran.

出版信息

Clin Case Rep. 2023 Sep 4;11(9):e7883. doi: 10.1002/ccr3.7883. eCollection 2023 Sep.

Abstract

KEY CLINICAL MESSAGE

This case emphasizes the significance of cardiac amyloidosis as a potential diagnosis in individuals manifesting with lesion-free pruritus and normal liver tests.

ABSTRACT

Amyloidosis is a complex disorder in which misfolded proteins accumulate in various organs of the body. Cardiac amyloidosis (CA) can lead to heart failure, cardiac arrhythmia, sudden cardiac death, and deposition of proteins in coronary arteries. Diagnosing CA can be difficult, as the cardiac manifestations of amyloidosis can be similar to more prevalent etiologies. In addition, the accumulation of proteins in soft tissues, including the skin, can cause pruritus. In this paper, we present a 70-year-old man with generalized pruritus and no skin lesions, later diagnosed as CA after detecting ascites fluid. This case underscores the importance of considering amyloidosis in patients presenting with nonspecific symptoms, particularly those affecting the skin, and highlights the need for increased awareness of this disease among clinicians.

摘要

关键临床信息

该病例强调了心脏淀粉样变性作为无皮疹瘙痒且肝功能检查正常个体潜在诊断的重要性。

摘要

淀粉样变性是一种复杂的疾病,其中错误折叠的蛋白质在身体的各个器官中积累。心脏淀粉样变性(CA)可导致心力衰竭、心律失常、心源性猝死以及蛋白质在冠状动脉中的沉积。诊断CA可能具有挑战性,因为淀粉样变性的心脏表现可能与更常见的病因相似。此外,蛋白质在包括皮肤在内的软组织中的积累可引起瘙痒。在本文中,我们介绍了一名70岁的男性,他全身瘙痒但无皮肤病变,在检测到腹水后被诊断为CA。该病例强调了在出现非特异性症状(尤其是影响皮肤的症状)的患者中考虑淀粉样变性的重要性,并突出了临床医生提高对这种疾病认识的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6f25/10477467/a9e4de9dc0c1/CCR3-11-e7883-g002.jpg

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