Rheumatology International

, Volume 39, Issue 7, pp 1241–1248 | Cite as

Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a retrospective study

  • S. Wasim
  • J. S. Suddaby
  • M. Parikh
  • S. Leylachian
  • B. Ho
  • A. Guerin
  • J. SoEmail author


In this retrospective study, we investigate the frequency and types of psychiatric disorders and their relationship to systemic manifestations in a cohort of 391 Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD) patients based on the current 2017 International Classification of EDS diagnostic criteria. A detailed, systematic retrospective chart review was undertaken for patients assessed for HSD or EDS at two Canadian health centres. Patients were diagnosed according to the Villefranche criteria and reclassified for this study according to the 2017 International Classification of EDS. Data validation and statistical analyses were conducted. Psychiatric disorders were very common, with 49.4% of the total cohort affected; 28.9% reported multiple psychiatric diagnoses. Mood (34.5%) and somatoform (28.6%) disorders were most common. Interestingly, attention-deficit/hyperactivity disorder (ADHD) was significantly enriched in the HSD, but not EDS cohort (p = 0.0002, 95% CI 3.48–9.00) compared to the general population. There were no differences in the systemic associations with having psychiatric manifestations in the HSD compared to the EDS subsets. Muscle/body pain (OR 1.99) and gastrointestinal dysfunction (OR 2.07) were significantly associated with having mood disorders, and gastrointestinal dysfunction (OR 2.61) and nerve-related pain (OR 3.27) were associated with having somatoform disorders across the cohort. The common systemic associations with the presence of psychiatric manifestations in both HSD and EDS reaffirm that the conditions should be treated as a spectrum rather than as wholly separate entities, particularly with respect to psychiatric management. EDS and HSD patients share common psychiatric presentations, though ADHD is more common with HSD.


Genetics Rheumatology Psychiatry Pain Gastrointestinal diseases 



We acknowledge Dorsa Sohaei for assisting with data collection.

Author contributions

SW contributed to study design, data analysis and interpretation, and revision of the work. JSS contributed to data interpretation, and drafting and revision of the work. MP contributed to data acquisition, and drafting and revision of the work. SL, BH and AG contributed to data acquisition and revision of the work. JS contributed to study conception and design, data acquisition and interpretation, and drafting and revision of the work. All authors gave final approval of the version to be published and agree to be accountable for all aspects of the work.


The authors declare that this work was not supported by any grant or funding.

Compliance with ethical standards

Conflict of interest

All authors declare no conflicts of interest.

Ethical approval

Ethics approval for this study was obtained from University Health Network (Research Ethics Board (REB) #: 16-5634; date of approval: July 22, 2016), Mount Sinai Hospital (REB #: 16-0180-C; date of approval: August 8, 2016) and Queen’s University (REB #: PAED-406-16; date of approval: September 27, 2016).

Informed consent

Waiver of informed consent was obtained from the University Health Network, Mount Sinai Hospital and Queen’s University REBs.

Supplementary material

296_2019_4293_MOESM1_ESM.tiff (4.4 mb)
Comparing the frequency of study patients (in percentage) classified according to the Villefranche (old) classification and the 2017 International (new) Classification. Analyses in the current study were undertaken according to the current classification. *hcEDS was not used when classifying patients according to the new criteria. **Classic-like Ehlers–Danlos Syndrome (clEDS) is a new diagnosis in the 2017 International Classification. Abbreviations: HSD, hypermobility spectrum disorders. hEDS, hypermobile EDS. hcEDS, overlapping hypermobility and classic EDS. cEDS, classic EDS. clEDS, classical-like EDS, a, arthrochalasia EDS. v, vascular EDS. k, kyphoscoliotic EDS. (TIFF 4546 KB)
296_2019_4293_MOESM2_ESM.docx (17 kb)
Supplementary material 2 (DOCX 17 KB)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Fred A. Litwin Family Centre in Genetic MedicineUniversity Health Network and Mount Sinai HospitalTorontoCanada
  2. 2.Department of Pediatrics, Division of Medical GeneticsQueen’s UniversityKingstonCanada
  3. 3.Centre for Addiction and Mental HealthTorontoCanada
  4. 4.Departments of Medicine, Psychiatry, and Laboratory Medicine and PathobiologyUniversity of TorontoTorontoCanada

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