Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type

Abstract

Some commonly reported systemic features of joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome hypermobility type (EDS-HT) are absent from nosologies due to insufficient validity. The primary aim was to examine the hypothesised high prevalence and frequency of orthostatic intolerance, easy bruising, and urinary incontinence in adults with JHS/EDS-HT and secondarily to determine the association between extent of generalised joint hypermobility (GJH) and these systemic features. A cross-sectional cohort study was conducted via online recruitment of medically diagnosed JHS/EDS-HT patients. A survey collected demographic data and clinical history. A subgroup of participants underwent physical testing of GJH using the Beighton score and Lower Limb Assessment Score (LLAS). Descriptive analysis was performed on demographic data and self-reported non-musculoskeletal systemic features. Correlation of GJH scores and systemic features were performed using Spearman's rank correlation. The survey was completed by 116 individuals (95% female; 16-68 years) with 57 (93% female) also participating in the physical assessment. The most prevalent systemic feature was orthostatic intolerance (98%), followed by easy bruising and urinary incontinence (97% and 84% respectively). Of those reporting symptoms of orthostatic intolerance, easy bruising, and urinary incontinence, 58%, 40%, and 18% described them as very highly frequent respectively (frequency > 75%). No significant correlations were found between the extent of systemic features and GJH scores as measured by either the Beighton score or the LLAS. The high prevalence and frequency of the systemic features found in this study, which are omitted in diagnostic classification criteria, suggest that further research on their diagnostic accuracy is warranted.

Keywords: Bruising; Diagnostic; Gastrointestinal; Hypermobility; Orthostatic intolerance; Urinary incontinence.