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衰老加速双重淀粉样变性的发生:阿尔茨海默病和野生型转甲状腺素蛋白淀粉样变性。

Senescence Accelerates the Occurrence of Dual Amyloidosis: Alzheimer's Disease and Wild-Type Transthyretin Amyloidosis.

作者信息

Misumi Yohei, Ando Yukio, Nakashima Naoya, Sugimura Yusuke, Shirahama Ryo, Noguchi Ryo, Matsuda Hirofumi, Ando Keiko, Tsunoda Naoko, Izumiya Yasuhiro, Tsujita Kenichi, Ueda Mitsuharu

机构信息

Department of Neurology, Kumamoto University, Kumamoto, JPN.

Department of Neurology, Amyloidosis Supporting Center, Sugimura Hospital, Kumamoto, JPN.

出版信息

Cureus. 2025 Apr 5;17(4):e81753. doi: 10.7759/cureus.81753. eCollection 2025 Apr.

Abstract

We report a case of dual amyloidosis with Alzheimer's disease and wild-type transthyretin (ATTRwt) amyloidosis. A 76-year-old man with Alzheimer's disease was referred for anti-amyloid-β therapy with lecanemab. He also had symptoms of congestive heart failure and a history of carpal tunnel syndrome, cubital tunnel syndrome, and lumbar spinal stenosis; raising Technetium-99m pyrophosphate myocardial scintigraphy showed abnormal uptake, and histopathologic examination revealed transthyretin (TTR) amyloid deposition in both myocardial and gastrointestinal biopsy specimens. Genetic testing for the gene revealed no variants. The diagnosis of ATTRwt amyloidosis was confirmed, and treatment with a TTR tetramer stabilizer, tafamidis, was initiated. Alzheimer's disease of the brain and ATTRwt amyloidosis of the heart are both representative amyloidoses associated with aging. To date, there are no reported cases of dual amyloidosis other than autopsy cases, but considering the high prevalence of both diseases, it is plausible that a significant number of elderly individuals may suffer from both diseases simultaneously but are underdiagnosed. In recent years, disease-modifying drugs effective against both diseases have become available, making early diagnosis increasingly important.

摘要

我们报告一例同时患有阿尔茨海默病和野生型转甲状腺素蛋白(ATTRwt)淀粉样变性的双重淀粉样变性病例。一名患有阿尔茨海默病的76岁男性因使用lecanemab进行抗淀粉样β蛋白治疗而前来就诊。他还伴有充血性心力衰竭症状,并有腕管综合征、肘管综合征和腰椎管狭窄病史;锝-99m焦磷酸盐心肌闪烁扫描显示摄取异常,组织病理学检查显示心肌和胃肠道活检标本中均有转甲状腺素蛋白(TTR)淀粉样沉积。对该基因进行基因检测未发现变异。ATTRwt淀粉样变性的诊断得到证实,并开始使用TTR四聚体稳定剂tafamidis进行治疗。脑部的阿尔茨海默病和心脏的ATTRwt淀粉样变性都是与衰老相关的典型淀粉样变性疾病。迄今为止,除了尸检病例外,尚无双重淀粉样变性的报道病例,但考虑到这两种疾病的高患病率,很可能有相当数量的老年人可能同时患有这两种疾病,但未得到充分诊断。近年来,针对这两种疾病均有效的疾病修饰药物已经出现,这使得早期诊断变得越来越重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ad2/12051751/995d9708d89a/cureus-0017-00000081753-i01.jpg

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