Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
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.
KeywordsBruising Diagnostic Gastrointestinal Hypermobility Orthostatic intolerance Urinary incontinence
The authors would like to thank Feili Zhang and Kaitlin Meyer for their assistance in participant recruitment and data collection in this study.
This study was funded by a Biomedical Research Internal Grant from the Discipline of Biomedical Sciences (grant number 2015/001), Sydney Medical School, The University of Sydney.
Compliance with ethical standards
Ethical approval was granted by the University of Sydney’s Human Research Ethics Committee (No. 2012/5580).
- 4.Grahame R, Bird HA, Child A (2000) The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 27:1777–1779Google Scholar
- 9.Castori M (2012) Ehlers-Danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN Dermatol 2012:1–22Google Scholar
- 12.Krahe AM, Adams RD, Nicholson LL (2017) Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers–Danlos syndrome – hypermobility type. Disabil Rehabil 8288:1–8Google Scholar
- 16.Annemans L, Wessely S, Spaepen E, Caekelbergh K, Caubère JP, Le Lay K, Taïeb C (2008) Health economic consequences related to the diagnosis of fibromyalgia syndrome. Arthritis Rheum 58:895–902Google Scholar
- 17.Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, de Backer J, de Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B (2017) The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet Part C: Semin Med Genet 175:8–26CrossRefGoogle Scholar
- 21.Rombaut L, Malfait F, Cools A, De Paepe A, Calders P (2010) Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers–Danlos syndrome hypermobility type. Disabil Rehabil 32:1339–1345Google Scholar
- 23.Lodish H, Berk A, Kaiser C, Krieger M, Scott MP, Bretscher A, Matsudaira P (2008) Molecular cell biology. WH Freeman, New YorkGoogle Scholar
- 25.Ferrari J, Parslow C, Lim E, Hayward A (2005) Joint hypermobility: the use of a new assessment tool to measure lower limb hypermobility. Clin Exp Rheumatol 23:413–420Google Scholar
- 26.Meyer K, Chan C, Hopper L, Nicholson LL (2017) Identifying lower limb specific and generalised joint hypermobility in adults: validation of the Lower Limb Assessment Score identifying lower limb specific and generalised joint hypermobility in adults : a validation study. BMC Musculoskelet Disord 18:514CrossRefGoogle Scholar
- 33.Freeman R, Wieling W, Axelrod FB, Benditt DG, Benarroch E, Biaggioni I, Cheshire WP, Chelimsky T, Cortelli P, Gibbons CH, Goldstein DS, Hainsworth R, Hilz MJ, Jacob G, Kaufmann H, Jordan J, Lipsitz LA, Levine BD, Low PA, Mathias C, Raj SR, Robertson D, Sandroni P, Schatz IJ, Schondorf R, Stewart JM, van Dijk JG (2011) Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome. Autonomic Neurosci: Basic Clin 161:46–48CrossRefGoogle Scholar
- 35.Moon J, Kim D-Y, Byun J-I, Sunwoo J-S, Lim J-A, Kim T-J, Shin JW, Lee WJ, Lee HS, Jun JS, Park KI, Jung KH, Lee ST, Jung KY, Chu K, Lee SK (2016) Orthostatic intolerance symptoms are associated with depression and diminished quality of life in patients with postural tachycardia syndrome. Health Qual Life Outcomes 14:144CrossRefGoogle Scholar
- 38.Hawthorne G (2006) Measuring incontinence in Australia. Commonwealth of Australia, CanberraGoogle Scholar