Tian Li, Tang Anliu, Zhang Xian, Mei Zhen, Liu Fen, Li Jingbo, Li Xiayu, Ai Feiyan, Wang Xiaoyan, Shen Shourong
The Third Xiangya Hospital of Central South University, 138 Tongzipo Road, Yuelu District Changsha, Hunan, 410013, China.
BMC Gastroenterol. 2017 Jun 5;17(1):72. doi: 10.1186/s12876-017-0628-3.
AL Amyloidosis is known to be a systemic disease affecting multiple organs and tissue while it's rare that patients present with gastrointestinal symptoms at first and later develop multiple-organ dysfuction. Clinical signs are not specific and the diagnosis is rarely given before performing immunofixation and endoscopy with multiple biopsies. We would like to emphasize the value of precise diagnostic process of AL amyloidosis.
In this case report, we describe a 56-year-old man who presented with recurrent periumbilical pain for 4 months and gradually worsened over a month. After a series of tests, he was finally diagnosed with primary systemic AL amyloidosis. He was treated with a chemotherapy regimen (Melphalan, dexamethasone and thalidomide) achieving a good clinical response.
On account of the high misdiagnosis rate, establishing the most precise diagnosis in first time with typing amyloidogenic protein becomes increasingly vital. Although the presenting feature is usually nonspecific, AL amyloidosis ought to be considered when multiple organs are involved in a short period.
AL淀粉样变性是一种累及多个器官和组织的全身性疾病，而患者最初表现为胃肠道症状，随后发展为多器官功能障碍的情况较为罕见。临床症状不具有特异性，在进行免疫固定电泳和多次活检的内镜检查之前，很少能做出诊断。我们想强调AL淀粉样变性精确诊断过程的价值。
在本病例报告中，我们描述了一名56岁男性，他脐周反复疼痛4个月，并在一个月内逐渐加重。经过一系列检查，他最终被诊断为原发性系统性AL淀粉样变性。他接受了化疗方案（美法仑、地塞米松和沙利度胺）治疗，取得了良好的临床反应。
由于误诊率高，首次通过对淀粉样蛋白进行分型建立最精确的诊断变得越来越重要。尽管临床表现通常不具有特异性，但当多个器官在短时间内受累时，应考虑AL淀粉样变性。
