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揭开谜团:一例在数月不明症状后确诊的罕见惠普尔病病例报告。

Unraveling the Mystery: A Report of a Rare Case of Whipple's Disease Diagnosed After Months of Unexplained Symptoms.

作者信息

Martins Ana Filipa, Moreira Cleide, de Brito Gonçalves Inês, Mendes Alexandra, Matos Sousa Rita

机构信息

Internal Medicine, Hospital de Braga, Braga, PRT.

Pulmonology, Hospital de Braga, Braga, PRT.

出版信息

Cureus. 2025 Apr 4;17(4):e81700. doi: 10.7759/cureus.81700. eCollection 2025 Apr.

Abstract

Whipple's disease is a rare, chronic infectious condition with a highly variable presentation, often manifesting as arthralgia, diarrhea, and abdominal pain, resembling other gastrointestinal and rheumatologic disorders. As a result, diagnosis is often challenging and frequently delayed for three to seven years after symptom onset. Here, we present a case of a 61-year-old man who experienced abdominal distension, nausea, 18 kg weight loss (25% body weight), and diarrhea for six months. After an extensive workup, including endoscopies, imaging, and laboratory tests, a diagnosis of Whipple's disease was confirmed based on duodenal biopsy showing periodic acid-Schiff (PAS)-positive macrophages. The diagnostic process took three months, underscoring the difficulty in identifying this rare, unusual condition. Treatment was guided by more recent discoveries regarding the susceptibility of This case highlights the importance of maintaining a high clinical suspicion of Whipple's disease in patients with unexplained symptoms.

摘要

惠普尔病是一种罕见的慢性感染性疾病,临床表现高度多变,常表现为关节痛、腹泻和腹痛,类似于其他胃肠道和风湿性疾病。因此,诊断往往具有挑战性,症状出现后经常延迟三到七年。在此,我们报告一例61岁男性,他出现腹胀、恶心、体重减轻18公斤(占体重的25%)和腹泻六个月。经过包括内镜检查、影像学检查和实验室检查在内的全面检查,基于十二指肠活检显示过碘酸-希夫(PAS)阳性巨噬细胞,确诊为惠普尔病。诊断过程耗时三个月,凸显了识别这种罕见、不寻常疾病的困难。治疗以关于[此处原文缺失相关内容]易感性的最新发现为指导。该病例强调了对有不明症状的患者保持高度临床怀疑惠普尔病的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b988/12050012/c911d803ccec/cureus-0017-00000081700-i01.jpg

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