背景:AL淀粉样变性是一种累及多个器官和组织的全身性疾病,但罕见患者先出现胃肠道症状后出现多器官功能失调。临床体征不是特异性的,在进行免疫固定和多次活检的内窥镜检查之前很少给出诊断。我们想强调AL淀粉样变性的精确诊断过程的价值。
方法:在本案例报告中,我们描述了一名56岁的男性,他反复出现脐周疼痛4个月,并在1个月内逐渐加重.经过一系列的测试,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(美法伦,地塞米松和沙利度胺)达到良好的临床反应。
结论:由于误诊率高,通过对淀粉样蛋白进行分型,在第一时间建立最精确的诊断变得越来越重要。尽管呈现功能通常是非特定的,当短时间内涉及多个器官时,应考虑AL淀粉样变性。
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.