a Department of Public Health and Clinical Medicine , Umeå University , Umeå , Sweden.
Expert Rev Gastroenterol Hepatol. 2018 Jan;12(1):73-81. doi: 10.1080/17474124.2018.1397511. Epub 2017 Nov 20.
Hereditary transthyretin amyloidosis (ATTRm amyloidosis) is a rare disease caused by the deposition and accumulation of insoluble non-native transthyretin fibrils in the body. The disease inevitably results in widespread organ disruption, and poor life expectancy. The GI tract is one organ system vulnerable to disruption and, although the clinical presentation of the disease varies, GI involvement affects most patients with ATTRm amyloidosis. Areas covered: This article presents our experience with diagnosing and treating the GI symptoms of ATTRm amyloidosis patients at our center over the last 40 years, in the Swedish clustering area of the disease. Our aim is to help other physicians to better manage GI complications in patients with this rare but widespread condition. Expert commentary: GI symptoms are debilitating complications for ATTRm amyloidosis patients to experience, yet with the appropriate questioning and diagnosis methods, symptomatic treatments of these symptoms can be implemented to provide relief. Further, patients with fewer GI complications and a good nutritional status are also better candidates for liver transplantation which, in selected cases, is the best disease-modifying treatment of ATTRm amyloidosis to date.
遗传性转甲状腺素蛋白淀粉样变性病（ATTRm 淀粉样变性病）是一种罕见疾病，由体内不溶性非天然转甲状腺素蛋白纤维的沉积和积累引起。该疾病不可避免地导致广泛的器官损伤，预期寿命较短。胃肠道是易受损伤的器官系统之一，尽管疾病的临床表现各不相同，但胃肠道受累影响大多数 ATTRm 淀粉样变性病患者。涵盖领域：本文介绍了我们在过去 40 年中在瑞典疾病聚集区的中心诊断和治疗 ATTRm 淀粉样变性病患者胃肠道症状的经验。我们的目的是帮助其他医生更好地管理这种罕见但广泛存在的疾病患者的胃肠道并发症。专家评论：胃肠道症状是 ATTRm 淀粉样变性病患者出现的使人虚弱的并发症，但通过适当的询问和诊断方法，可以实施对这些症状的对症治疗，以提供缓解。此外，胃肠道并发症较少且营养状况良好的患者也是肝移植的更好候选者，在某些情况下，肝移植是迄今为止治疗 ATTRm 淀粉样变性病的最佳疾病修饰治疗方法。
