Müller Christoph, Warth Arne
Department of Internal Medicine, University of Marburg, Marburg, Germany.
Department of Pathology, Klinikum Wetzlar, Wetzlar, Germany.
Case Rep Oncol. 2025 Mar 29;18(1):539-553. doi: 10.1159/000545586. eCollection 2025 Jan-Dec.
Amyloidosis is a rare disease characterized by the deposition of misfolded proteins in different organs leading to tissue damage and organ failure. The immunoglobulin light chain produced by a monoclonal B-cell is one of more than 30 proteins identified to cause amyloidosis. Most commonly affecting the heart and kidneys, AL (amyloid, light chain) -amyloidosis can occur in any organ except for the central nervous system and carries a high morbidity and mortality. Gastrointestinal involvement is observed rather rarely and can present with intestinal obstruction, weight loss, hematochezia, malabsorption, or hematemesis. In this case report and systematic review, we present a 76-year-old male patient with new onset recurrent hematemesis and melena due to duodenal AL-amyloidosis and give a summary on the reported cases of upper gastrointestinal bleeding caused by the disease.
The report of this case was guided by the CARE guidelines and served as an example to allow for a discussion of the specific aspects of upper gastrointestinal bleeding in AL-amyloidosis. A comprehensive literature search was conducted using the databases PubMed, Embase and Google Scholar. After applying the eligibility criteria, a total count of 26 were included into the systematic review which was reported according to the PRISMA checklist. The reported case showed recurrent hematemesis as the initial symptom of AL-amyloidosis due to B-cell dyscrasia and appeared to be characteristic of patients presenting with primary gastrointestinal involvement. Summarizing the biometric and clinical details of the individuals included into the systematic review, we observed a mean age of 66 years, a slight female predominance and a preferred clinical manifestation in the stomach and duodenum with localized disease in 38% of all cases.
Although being a rare cause of upper gastrointestinal bleeding, AL-amyloidosis should be considered in patients with endoscopic findings of systemic disease and a clinical condition of suspected or known B-cell dyscrasia. An early diagnosis is crucial for patients with AL-amyloidosis as the disease often shows a rapid progression and treatment with combined personalized-/chemotherapy is usually well tolerated and highly efficient.
淀粉样变性是一种罕见疾病，其特征是错误折叠的蛋白质沉积在不同器官中，导致组织损伤和器官衰竭。单克隆B细胞产生的免疫球蛋白轻链是已确定的导致淀粉样变性的30多种蛋白质之一。AL（淀粉样蛋白，轻链）淀粉样变性最常累及心脏和肾脏，可发生于除中枢神经系统外的任何器官，发病率和死亡率都很高。胃肠道受累较为罕见，可表现为肠梗阻、体重减轻、便血、吸收不良或呕血。在本病例报告和系统评价中，我们介绍了一名76岁男性患者，因十二指肠AL淀粉样变性出现新发反复呕血和黑便，并对该疾病所致上消化道出血的报告病例进行了总结。
本病例报告遵循CARE指南编写，并作为一个示例，以便讨论AL淀粉样变性中上消化道出血的具体方面。使用PubMed、Embase和谷歌学术数据库进行了全面的文献检索。应用纳入标准后，共有26例被纳入系统评价，并根据PRISMA清单进行报告。报告的病例显示，由于B细胞发育异常，反复呕血是AL淀粉样变性的初始症状，似乎是原发性胃肠道受累患者的特征。总结纳入系统评价的个体的生物统计学和临床细节，我们观察到平均年龄为66岁，女性略占优势，胃和十二指肠是主要的临床表现部位，38%的病例为局限性疾病。
尽管AL淀粉样变性是上消化道出血的罕见原因，但对于有系统性疾病内镜检查结果且临床怀疑或已知B细胞发育异常的患者，应考虑该病。早期诊断对AL淀粉样变性患者至关重要，因为该疾病通常进展迅速，联合个体化/化疗治疗通常耐受性良好且效率高。
