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晚期心脏淀粉样变性病例表现为慢性腹泻。

Advanced Case of Cardiac Amyloidosis Presents With Chronic Diarrhea.

作者信息

Abdelsamia Mahmoud, Mosalem Osama, Radwan Yasser, Boumegouas Manal, Laird Fick Heather

机构信息

Internal Medicine, Michigan State University, East Lansing, USA.

Cardiovascular Disease, Michigan State University, East Lansing, USA.

出版信息

Cureus. 2022 Jul 11;14(7):e26757. doi: 10.7759/cureus.26757. eCollection 2022 Jul.

DOI:10.7759/cureus.26757
PMID:35967141
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9365329/
Abstract

Late diagnosis of light chain (AL) amyloidosis can lead to catastrophic consequences on the quality of life of affected patients and overall disease prognosis. Therefore, clinicians should have high suspicion and recognize clinical red flags for amyloidosis. This case report presents a 65-year-old female who presented to the emergency department with chronic diarrhea and significant weight loss with significant hypotension. The patient was treated four weeks prior to admission with a five-day course of nitrofurantoin for urinary tract infection. The initial workup was positive for Clostridium difficile(C.diff), which was treated medically; however, the patient started to complain of mild shortness of breath accompanied by mildly elevated brain natriuretic peptide (BNP). Later on, the patient had a cardiac arrest and was appropriately resuscitated. Subsequent ECHO showed significant left ventricular hypertrophy, raising high suspicion of myocardial infiltration. Because of persistent diarrhea despite aggressive medical management and an inconclusive workup, the patient underwent colonoscopy with duodenum biopsy, which revealed amyloid deposition confirmed by Congo red staining. The patient afterward suffered from a stroke and recurrent syncopal episodes requiring critical care admission. Due to a compromised quality of life, the patient eventually opted for hospice care. In view of insufficient prospective data spotlighting AL amyloidosis, all patients should be treated within clinical trials whenever possible and ideally evaluated for autologous hematopoietic cell transplantation (HCT) eligibility.

摘要

轻链(AL)淀粉样变性的晚期诊断可能会对受影响患者的生活质量和整体疾病预后产生灾难性后果。因此,临床医生应高度怀疑并识别淀粉样变性的临床警示信号。本病例报告介绍了一名65岁女性,她因慢性腹泻、显著体重减轻和严重低血压就诊于急诊科。患者在入院前四周因尿路感染接受了为期五天的呋喃妥因治疗。初始检查艰难梭菌(C.diff)呈阳性,接受了药物治疗;然而,患者开始抱怨轻度气短,同时脑钠肽(BNP)轻度升高。后来,患者发生心脏骤停并得到了适当复苏。随后的超声心动图显示左心室显著肥厚,高度怀疑心肌浸润。尽管积极进行药物治疗但腹泻持续,且检查结果不明确,患者接受了结肠镜检查及十二指肠活检,刚果红染色证实有淀粉样蛋白沉积。此后,患者发生中风和反复晕厥发作,需要重症监护入院治疗。由于生活质量受损,患者最终选择了临终关怀。鉴于关于AL淀粉样变性的前瞻性数据不足,所有患者应尽可能在临床试验中接受治疗,并理想地评估其自体造血细胞移植(HCT)的 eligibility 。 (原文中“eligibility”未准确翻译,可能是“资格”之类的意思,因缺少上下文难以精准确定)

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/738561a57a71/cureus-0014-00000026757-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/bf386234e842/cureus-0014-00000026757-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/e8f8d3f02287/cureus-0014-00000026757-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/f8c83ce4d9c4/cureus-0014-00000026757-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/1dcee8a1d49d/cureus-0014-00000026757-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/738561a57a71/cureus-0014-00000026757-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/bf386234e842/cureus-0014-00000026757-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/e8f8d3f02287/cureus-0014-00000026757-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/f8c83ce4d9c4/cureus-0014-00000026757-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/1dcee8a1d49d/cureus-0014-00000026757-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/acff/9365329/738561a57a71/cureus-0014-00000026757-i05.jpg

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N Engl J Med. 2021 Jul 1;385(1):46-58. doi: 10.1056/NEJMoa2028631.
2
Comprehensive Review of AL amyloidosis: some practical recommendations.AL 淀粉样变的全面综述:一些实用建议。
Blood Cancer J. 2021 May 18;11(5):97. doi: 10.1038/s41408-021-00486-4.
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Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee.淀粉样变命名 2020:国际淀粉样变协会(ISA)命名委员会的更新和建议。
Amyloid. 2020 Dec;27(4):217-222. doi: 10.1080/13506129.2020.1835263. Epub 2020 Oct 26.
4
Systemic amyloidosis from A (AA) to T (ATTR): a review.系统性淀粉样变,从 A(AA)到 T(ATTR):综述。
J Intern Med. 2021 Mar;289(3):268-292. doi: 10.1111/joim.13169. Epub 2020 Sep 14.
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Fifteen year overall survival rates after autologous stem cell transplantation for AL amyloidosis.自体干细胞移植治疗 AL 淀粉样变性后的 15 年总生存率。
Am J Hematol. 2019 Sep;94(9):1020-1026. doi: 10.1002/ajh.25566. Epub 2019 Jul 11.
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A Modern Primer on Light Chain Amyloidosis in 592 Patients With Mass Spectrometry-Verified Typing.592 例经质谱验证分型的轻链淀粉样变患者的现代概论。
Mayo Clin Proc. 2019 Mar;94(3):472-483. doi: 10.1016/j.mayocp.2018.08.006. Epub 2019 Feb 13.
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Incidence of AL Amyloidosis in Olmsted County, Minnesota, 1990 through 2015.明尼苏达州奥姆斯特德县 1990 年至 2015 年 AL 淀粉样变性的发病率。
Mayo Clin Proc. 2019 Mar;94(3):465-471. doi: 10.1016/j.mayocp.2018.08.041. Epub 2019 Jan 31.
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A phase 1/2 study of the oral proteasome inhibitor ixazomib in relapsed or refractory AL amyloidosis.口服蛋白酶体抑制剂伊沙佐米用于复发或难治性AL淀粉样变性的1/2期研究。
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