Ehlers-Danlos syndromes: importance of defining the type

Pract Neurol. 2023 Dec 30:pn-2023-003703. doi: 10.1136/pn-2023-003703. Online ahead of print.ABSTRACTEhlers-Danlos syndromes (EDS) is an umbrella term describing 14 types, of which 13 are rare and monogenic, with overlapping features of joint hypermobility, skin, and vascular fragility, and generalised connective tissue friability. Hypermobile EDS currently has no identified genetic cause. Most of the rare monogenic EDS types can have neurological features, which are often part of major or minor diagnostic criteria for each type. This review aims to highlight the neurological features and other key characteristics of these EDS types. This should improve recognition of these features, enabling more timely consideration and confirmation or exclusion through genetic testing. In practice, many healthcare professionals still refer to patients as having 'EDS'. However, the different EDS types have distinct clinical features as well as different underlying genetic causes and pathogenic mechanisms, and each requires bespoke management and surveillance. Defining the EDS type is therefore crucial, as EDS is not in itself a diagnosis.PMID:38160052 | DOI:10.1136/pn-2023-003703

Source: Practical Neurology - December 30, 2023 Category: Neurology Authors: Fleur S van Dijk Neeti Ghali Arvind Chandratheva Source Type: research