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一种极其罕见的蛋白丢失性肠病病因:华氏巨球蛋白血症。

An Extremely Rare Cause of Protein-Losing Enteropathy: Waldenström Macroglobulinemia.

作者信息

Saab Omar, Algodi Marwah, Al-Obaidi Hasan, Al-Sagban Alhareth, Setrakian Sebouh, Rubio-Tapia Alberto

机构信息

Hospital Medicine Department, Cleveland Clinic, Cleveland, OH.

Jersey Shore University Medical Center, Neptune, NJ.

出版信息

ACG Case Rep J. 2025 Aug 4;12(8):e01800. doi: 10.14309/crj.0000000000001800. eCollection 2025 Aug.

DOI:10.14309/crj.0000000000001800
PMID:40761335
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12321444/
Abstract

Protein-losing enteropathy (PLE) results in the abnormal loss of proteins through the gastrointestinal tract, leading to malabsorption and hypoalbuminemia. A rare etiology of PLE is Waldenström macroglobulinemia (WM), a hematological malignancy characterized by immunoglobulin M (IgM) monoclonal gammopathy. We present a case of a 66-year-old man with a history of small bowel bacterial overgrowth and lactose intolerance, admitted for worsening gastrointestinal symptoms, including abdominal discomfort, bloating, and watery diarrhea. He had experienced significant weight loss and anasarca over 6 months. Laboratory tests indicated hypoproteinemia, hypoalbuminemia, and elevated IgM levels, accompanied by abnormal stool studies. Imaging showed no significant findings, while endoscopic evaluation revealed lymphangiectasia-like changes in the small bowel. Biopsy results demonstrated proteinaceous material in dilated villi and IgM deposition. The diagnosis of WM was confirmed by bone marrow biopsy. Thus, WM should be considered when evaluating unexplained PLE, particularly with associated gastrointestinal symptoms and elevated IgM levels.

摘要

蛋白丢失性肠病(PLE)导致蛋白质通过胃肠道异常丢失,进而引起吸收不良和低蛋白血症。PLE的一种罕见病因是华氏巨球蛋白血症(WM),这是一种以免疫球蛋白M(IgM)单克隆丙种球蛋白病为特征的血液系统恶性肿瘤。我们报告一例66岁男性病例,该患者有小肠细菌过度生长和乳糖不耐受病史,因胃肠道症状恶化入院,包括腹部不适、腹胀和水样腹泻。他在6个月内体重显著减轻并出现全身水肿。实验室检查显示低蛋白血症、低白蛋白血症和IgM水平升高,同时粪便检查异常。影像学检查未发现明显异常,而内镜评估显示小肠有类似淋巴管扩张的改变。活检结果显示扩张绒毛中有蛋白质样物质和IgM沉积。骨髓活检确诊为WM。因此,在评估不明原因的PLE时,尤其是伴有胃肠道症状和IgM水平升高时,应考虑WM。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/1cc417780feb/ac9-12-e01800-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/b2f818344a38/ac9-12-e01800-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/797ee8557e52/ac9-12-e01800-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/06f01c2f568a/ac9-12-e01800-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/68688bcf6931/ac9-12-e01800-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/71891245ba45/ac9-12-e01800-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/1cc417780feb/ac9-12-e01800-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/b2f818344a38/ac9-12-e01800-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/797ee8557e52/ac9-12-e01800-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/06f01c2f568a/ac9-12-e01800-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/68688bcf6931/ac9-12-e01800-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/71891245ba45/ac9-12-e01800-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d6a/12321444/1cc417780feb/ac9-12-e01800-g006.jpg

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本文引用的文献

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Waldenstrom Macroglobulinemia: Tailoring Therapy for the Individual.华氏巨球蛋白血症:为个体定制治疗方案。
J Clin Oncol. 2022 Aug 10;40(23):2600-2608. doi: 10.1200/JCO.22.00495. Epub 2022 Jun 14.
2
Waldenström macroglobulinemia.华氏巨球蛋白血症。
Klin Onkol. 2021 Fall;34(6):428-433. doi: 10.48095/ccko2021428.
3
Waldenström's macroglobulinemia masquerading as ovarian cancer with peritoneal carcinomatosis, ascites, and elevated CA-125.华氏巨球蛋白血症伪装成伴有腹膜癌病、腹水及CA-125升高的卵巢癌。
Hematol Oncol Stem Cell Ther. 2019 Mar;12(1):54-59. doi: 10.1016/j.hemonc.2017.02.004. Epub 2017 Mar 31.
4
Intestinal lymphangiectasia with protein-losing enteropathy in Waldenstrom macroglobulinemia.华氏巨球蛋白血症伴蛋白丢失性肠病的肠道淋巴管扩张症
Medicine (Baltimore). 2007 Jul;86(4):210-214. doi: 10.1097/MD.0b013e31812e5242.