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诊断高活动型埃勒斯-当洛综合征标准中的矛盾反映了一些关于正常与病理阈值的哲学辩论。

The Contradictions in the Criteria for Diagnosing Hypermobile Ehlers-Danlos Syndrome as Reflecting Some of the Philosophical Debates about the Threshold between the Normal and the Pathological.

作者信息

Rosàs Tosas Mar

机构信息

Ramon Llull University, Barcelona, Spain.

出版信息

J Med Philos. 2025 Jul 21;50(4):248-261. doi: 10.1093/jmp/jhaf004.

Abstract

The arrival of some diagnoses tends to bring about relief because it validates suffering and grants access to social legitimization, medical resources, and economic aid. This is the case of the Ehlers-Danlos Syndrome (EDS), a pathology with multisystemic involvement characterized by general laxity. Patients find it difficult to secure a diagnosis of one of its types-hypermobile EDS-due to a lack of awareness among physicians, the multiple changes that the diagnostic criteria undergo, and their increasing restrictivity. Consequently, several patients are intermittently let in and out of the diagnostic label, which leads some members of family, friends, administration, working environment, and healthcare professionals to view these patients with a skeptical gaze. This article argues that the ambiguity and contradictions surrounding the diagnosis of hEDS partially result from and reflect two philosophical controversies on the nature of disease. First, the debate between naturalists and normativists. Second, the discussion on the line-drawing problem. It concludes by urging healthcare practitioners to tell patients the implications of these contradictions-mainly, that medicine can work, and does work, without definitive diagnostic criteria.

摘要

某些诊断的得出往往会带来宽慰,因为它证实了患者的痛苦,并使患者能够获得社会认可、医疗资源和经济援助。埃勒斯-当洛综合征(EDS)就是这样,这是一种多系统受累的病理状况,其特征为全身关节松弛。由于医生对此缺乏认识、诊断标准不断变化且越来越严格,患者很难确诊其中一种类型——活动度过高型EDS。因此,一些患者在诊断标签中进进出出,这使得一些家庭成员、朋友、管理人员、工作环境以及医疗保健专业人员对这些患者持怀疑态度。本文认为,围绕活动度过高型EDS诊断的模糊性和矛盾性部分源于并反映了关于疾病本质的两种哲学争论。第一,自然主义者和规范主义者之间的辩论。第二,关于划界问题的讨论。文章最后敦促医疗从业者告知患者这些矛盾的影响——主要是,医学在没有明确诊断标准的情况下也能够并且确实发挥着作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a37/12279013/f2d57cd6afa2/jhaf004_fig1.jpg

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