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

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.