Amyloidosis for the Gastroenterologist: A Comprehensive Systematic Review of Diagnosis and Management of Gastrointestinal Manifestations.

IF 3.4 3区医学 Q2 GASTROENTEROLOGY & HEPATOLOGY

Journal of Gastroenterology and Hepatology Pub Date : 2025-10-08 DOI:10.1111/jgh.70083

Myo Jin Tang, Theng Yi Tay, Simon Gibbs, Ola Niewiadomski

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引用次数: 0

Abstract

Background: Amyloidosis is a rare, multisystem disorder characterized by extracellular deposition of misfolded protein fibrils. Gastrointestinal (GI) amyloidosis is uncommon but under-recognized due to nonspecific symptoms, but early diagnosis is critical to improve quality of life and prognosis. This comprehensive systematic review aimed to summarize current literature on GI and hepatic manifestations of amyloidosis, highlighting diagnostic and management strategies across the major subtypes of amyloidosis, in particular AL (immunoglobulin light chain), ATTR (transthyretin), and AA (serum amyloid A) amyloidosis.

Methods: A systematic search of MEDLINE, Embase, and PubMed conducted for studies published between January 2014 and December 2024 identified 77 studies meeting inclusion criteria.

Results: GI symptoms occur in approximately 1 in 6 patients with amyloidosis, but symptoms correlate poorly with gastrointestinal deposition. Current literature suggests that duodenal biopsy is the most reliable diagnostic site. Fibroscan shows promise in detecting hepatic amyloid involvement. Management is subtype specific. However, supportive care, particularly nutritional intervention, is essential across all subtypes.

Conclusions: GI amyloidosis presents diversely with nonspecific symptoms. Standardized diagnostic algorithms, targeted therapies, and nutritional support can lead to improved outcomes and enhance quality of life.

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淀粉样变的胃肠病学家：一个全面的系统评价诊断和管理的胃肠道表现。

背景：淀粉样变性是一种罕见的多系统疾病，其特征是错误折叠的蛋白原纤维在细胞外沉积。胃肠（GI）淀粉样变性是罕见的，但由于非特异性症状而被忽视，但早期诊断对改善生活质量和预后至关重要。本综合系统综述旨在总结目前关于淀粉样变性的胃肠道和肝脏表现的文献，强调淀粉样变性主要亚型的诊断和治疗策略，特别是AL（免疫球蛋白轻链）、ATTR（转甲状腺素）和AA（血清淀粉样蛋白A）淀粉样变性。方法：对2014年1月至2024年12月间发表的研究进行MEDLINE、Embase和PubMed系统检索，确定了77项符合纳入标准的研究。结果：大约六分之一的淀粉样变性患者出现胃肠道症状，但症状与胃肠道沉积相关性较差。目前的文献表明，十二指肠活检是最可靠的诊断部位。纤维扫描在检测肝淀粉样蛋白累及方面显示出前景。管理是特定于子类型的。然而，支持治疗，特别是营养干预，对所有亚型都是必不可少的。结论：胃肠道淀粉样变性表现多样，无特异性症状。标准化的诊断算法、靶向治疗和营养支持可以改善预后并提高生活质量。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Gastroenterology and Hepatology 医学-胃肠肝病学

CiteScore

7.90

自引率

2.40%

发文量

326

审稿时长

2.3 months

期刊介绍： Journal of Gastroenterology and Hepatology is produced 12 times per year and publishes peer-reviewed original papers, reviews and editorials concerned with clinical practice and research in the fields of hepatology, gastroenterology and endoscopy. Papers cover the medical, radiological, pathological, biochemical, physiological and historical aspects of the subject areas. All submitted papers are reviewed by at least two referees expert in the field of the submitted paper.