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系统性硬化症的早期诊断:全科医生的作用

Early Diagnosis of Systemic Sclerosis: The Role of General Practitioner.

作者信息

Freixo Armanda, Abreu Cecília

机构信息

Unidade de Saúde Familiar (USF) Lethes, Unidade Local de Saúde do Alto Minho, Ponte de Lima, PRT.

出版信息

Cureus. 2022 Dec 7;14(12):e32291. doi: 10.7759/cureus.32291. eCollection 2022 Dec.

DOI:10.7759/cureus.32291
PMID:36628007
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9820582/
Abstract

Systemic sclerosis (SSc) is a chronic, rare, and idiopathic disease characterized by the presence of microcirculatory and immune alterations followed by fibrosis. It is clinically heterogeneous and may present a rapid and progressive involvement that leads to disability and death. Over the years, the approach has changed with an increasing focus on early diagnosis. Raynaud's phenomenon (RP) and puffy fingers are "red flags" to refer the patients to rheumatology to detect and start the appropriate treatment of such a rare and complex disease. We present a case of a 75-year-old woman with edema and bright erythema on the back and palm of the hands, telangiectasias of the face, and RP with three years of evolution. The aim of this case is to recall the importance of primary care physicians in recognizing the main clinical manifestations of SSc that are sometimes undervalued.

摘要

系统性硬化症(SSc)是一种慢性、罕见的特发性疾病,其特征是存在微循环和免疫改变,随后出现纤维化。它在临床上具有异质性,可能表现为迅速且进行性的病变,导致残疾和死亡。多年来,随着对早期诊断的日益关注,治疗方法发生了变化。雷诺现象(RP)和手指肿胀是将患者转诊至风湿病科以检测并开始针对这种罕见且复杂疾病进行适当治疗的“警示信号”。我们报告一例75岁女性病例,其手背和手掌出现水肿及鲜红色红斑、面部有毛细血管扩张,且患有病程达三年的RP。该病例的目的是提醒基层医疗医生认识到SSc的主要临床表现的重要性,而这些表现有时会被低估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ded9/9820582/54bab7d984da/cureus-0014-00000032291-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ded9/9820582/8b7e86ce019f/cureus-0014-00000032291-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ded9/9820582/54bab7d984da/cureus-0014-00000032291-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ded9/9820582/8b7e86ce019f/cureus-0014-00000032291-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ded9/9820582/54bab7d984da/cureus-0014-00000032291-i02.jpg

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本文引用的文献

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Very early systemic sclerosis.早期全身性硬皮病。
Best Pract Res Clin Rheumatol. 2019 Aug;33(4):101428. doi: 10.1016/j.berh.2019.101428. Epub 2019 Sep 3.
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Very Early Systemic Sclerosis and Pre-systemic Sclerosis: Definition, Recognition, Clinical Relevance and Future Directions.极早期系统性硬化症和前系统性硬化症:定义、识别、临床相关性及未来方向
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Preliminary analysis of the very early diagnosis of systemic sclerosis (VEDOSS) EUSTAR multicentre study: evidence for puffy fingers as a pivotal sign for suspicion of systemic sclerosis.早期系统性硬化症(VEDOSS)EUSTAR 多中心研究的初步分析:肿胀手指作为怀疑系统性硬化症的关键征象的证据。
Ann Rheum Dis. 2014 Dec;73(12):2087-93. doi: 10.1136/annrheumdis-2013-203716. Epub 2013 Aug 12.
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Ann Rheum Dis. 2012 Aug;71(8):1355-60. doi: 10.1136/annrheumdis-2011-200742. Epub 2012 May 21.
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Beyond Raynaud's phenomenon hides very early systemic sclerosis: the assessment of organ involvement is always mandatory.雷诺现象背后可能隐藏着极早期的系统性硬化症:对器官受累情况的评估始终是必要的。
Rheumatology (Oxford). 2011 Feb;50(2):250-1. doi: 10.1093/rheumatology/keq374. Epub 2010 Nov 28.
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Preliminary criteria for the very early diagnosis of systemic sclerosis: results of a Delphi Consensus Study from EULAR Scleroderma Trials and Research Group.早期系统性硬化症的初步诊断标准:EULAR 硬皮病试验和研究组德尔菲共识研究的结果。
Ann Rheum Dis. 2011 Mar;70(3):476-81. doi: 10.1136/ard.2010.136929. Epub 2010 Nov 15.
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EULAR recommendations for the treatment of systemic sclerosis: a report from the EULAR Scleroderma Trials and Research group (EUSTAR).欧洲抗风湿病联盟系统性硬化症治疗推荐:来自欧洲抗风湿病联盟硬皮病试验与研究组(EUSTAR)的报告
Ann Rheum Dis. 2009 May;68(5):620-8. doi: 10.1136/ard.2008.096677. Epub 2009 Jan 15.
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Classification criteria for systemic sclerosis subsets.系统性硬化症亚型的分类标准。
J Rheumatol. 2007 Sep;34(9):1855-63. Epub 2007 Aug 1.
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Clinical risk assessment of organ manifestations in systemic sclerosis: a report from the EULAR Scleroderma Trials And Research group database.系统性硬化症器官表现的临床风险评估:来自欧洲抗风湿病联盟硬皮病试验与研究组数据库的报告
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