Translating Research into Change: Reporting the Lived Experience of hEDS and HSD in Scotland
Keywords:
Hypermobility, Ehlers-Danlos Syndromes, Lived Experience, Scotland, Pathway of Care, Participatory ResearchSynopsis
This report offers a comprehensive examination of the lived experiences of individuals with hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobile Spectrum Disorders (HSD) in Scotland. The findings presented are primarily drawn from the “hEDS-START” project, an initiative aimed at highlighting the challenges faced by individuals living with hEDS/HSD in the United Kingdom.
Through a combination of surveys and patient engagement events, this project has gathered invaluable insights into the experiences of patients navigating the healthcare landscape in Scotland and focuses on the urgent need for a pathway of care within the NHS. Currently, there is a glaring absence of such a pathway, resulting in prolonged diagnostic journeys and inadequate access to specialist care for patients.
While we report here the survey data from the Scottish respondents, and the experiences discussed by our Scottish patient engagement group, it is important to bear in mind that these experiences are relevant to all of the devolved nations.
Supporting Agencies:
Downloads
References
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M. The 2017 international classification of the Ehlers–Danlos syndromes. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 8-26).
Martin A-M. EDS and Young People in Scotland: The Agency Needed to Prosper, [Internet]. EDS UK; 2020 [cited 2024 Apr 19]. Available from: https://www.ehlers-danlos.org/wp-content/uploads/2020/12/EXECUTIVE-SUMMARY-EDS-Scot-SINGLE-PAGES.pdf
Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison. BMJ Open [Internet]. 2019 Nov;9(11):e031365. Available from: https://bmjopen.bmj.com/content/9/11/e031365
Frankel B. Healthcare Use by Women with Joint Hypermobility in Northumberland* [Internet]. https://northeastnorthcumbria.nhs.uk/women-s-health-conference-2023/. NHS Northeast and North Cumbria; 2023 [cited 2024 Apr 2]. Available from: https://northeastnorthcumbria.nhs.uk/media/tyznrina/nenc-womens-health-conference-abstract-summary-final.pdf
Health and Social Care Standards: My support, My life,” [Internet]. Scottish Government; 2017 [cited 2024 Apr 2]. Available from: https://www.gov.scot/publications/health-social-care-standards-support-life/pages/3
The Ehlers-Danlos Syndromes GP Toolkit [Internet]. The Ehlers-Danlos syndromes (EDS) GP Toolkit. [cited 2024 Apr 23]. Available from: https://gptoolkit.ehlers-danlos.org/
Waiting Times [Internet]. NHS Inform. [cited 2024 Mar 20]. Available from: https://www.nhsinform.scot/waiting-times
Halverson CM, Cao S, Perkins SM, Francomano CA. Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos Syndrome. Genetics in Medicine Open. 2023 Jan 1;1(1):100812.Kalisch L, Hamonet C, Bourdon C, Montalescot L, de Cazotte C, Baeza-Velasco C. Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome. Disability and Rehabilitation. 2019 May 7;42(25):3679–86.
Cederlöf M, Larsson H, Lichtenstein P, Almqvist C, Serlachius E, Ludvigsson JF. Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings. BMC Psychiatry. 2016 Jul 4;16(1).
Syx D, Inge De Wandele, Lies Rombaut, Fransiska Malfait. Hypermobility, the Ehlers-Danlos syndromes and chronic pain. PubMed. 2017 Oct 3;35 Suppl 107(5):116–22.
Gullapalli PA, Javed S. Multidisciplinary chronic pain management strategies in patients with Ehlers–Danlos syndromes. Pain Management. 2022 Oct 28;13(1).
Zarate N, Farmer AD, Grahame R, Mohammed SD, Knowles CH, Scott SM, et al. Unexplained Gastrointestinal Symptoms and Joint hypermobility: Is Connective Tissue the Missing link? Neurogastroenterology & Motility. 2010 Mar;22(3):252-e78.
Bendik EM, Tinkle BT, Al-shuik E, Levin L, Martin A, Thaler R, et al. Joint hypermobility syndrome: A common clinical disorder associated with migraine in women. Cephalalgia. 2011 Jan 28;31(5):603–13.
McIntosh LJ, Mallett V, Frahm JD, Richardson D, Evans MI. Gynecologic disorders in women with Ehlers-Danlos syndrome. Journal of The Society for Gynecologic Investigation. 1995 Jun 1;2(3):559–64.
Carley ME, Schaffer J. Urinary incontinence and pelvic organ prolapse in women with Marfan or Ehlers-Danlos syndrome. American Journal of Obstetrics and Gynecology. 2000 May;182(5):1021–3.
Thwaites PA, Gibson PR, Burgell RE. Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know. Journal of Gastroenterology and Hepatology. 2022 Jul 20;182(5).
Choudhary A, Fikree A, Aziz Q. Overlap between Irritable Bowel Syndrome and Hypermobile Ehlers–Danlos syndrome: an Unexplored Clinical phenotype? American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2021 Nov 6;187(4):561–9.
Choudhary A, Vollebregt PF, Aziz Q, Scott SM, Asma Fikree. Rectal hyposensitivity: a common pathophysiological finding in patients with constipation and associated hypermobile Ehlers–Danlos syndrome. Alimentary Pharmacology & Therapeutics. 2022 Jun 27;56(5):802–13.
Arunkalaivanan AS, Morrison A, Jha S, Blann A. Prevalence of urinary and faecal incontinence among female members of the Hypermobility Syndrome Association (HMSA). Journal of Obstetrics and Gynaecology: The Journal of the Institute of Obstetrics and Gynaecology [Internet]. 2009 Feb 1 [cited 2020 Feb 15];29(2):126–8. Available from: https://www.ncbi.nlm.nih.gov/pubmed/19274546/
National Institute for Health and Care Excellence,. 2024 [cited 2024 Mar 22]. Available from: https://cks.nice.org.uk/topics/generalized-anxiety-disorder/background-information/prevalence
Bromet E, Andrade LH, Hwang I, Sampson NA, Alonso J, de Girolamo G, et al. Cross-national epidemiology of DSM-IV major depressive episode. BMC Medicine. 2011 Jul 26;9(1).
Kennedy M, Loomba K, Ghani H, Riley B. The psychological burden associated with Ehlers-Danlos syndromes: a systematic review. Journal of Osteopathic Medicine. 2022 Apr 14;0(0).
Bulbena A, Pailhez G, Bulbena-Cabré A, Mallorquí-Bagué N, Baeza-Velasco C. Joint hypermobility, anxiety and psychosomatics: two and a half decades of progress toward a new phenotype. Clinical challenges in the biopsychosocial interface. 2015;34:143-57.
Kroenke K, Spitzer RL, Williams JBW, Lowe B. An Ultra-Brief Screening Scale for Anxiety and Depression: The PHQ-4. Psychosomatics. 2009 Nov 1;50(6):613–21.
Löwe B, Wahl I, Rose M, Spitzer C, Glaesmer H, Wingenfeld K, et al. A 4-item measure of depression and anxiety: Validation and standardization of the Patient Health Questionnaire-4 (PHQ-4) in the general population. Journal of Affective Disorders. 2010 Apr;122(1-2):86–95.
Ishiguro H, Yagasaki H, Horiuchi Y. Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review. Frontiers in Psychiatry. 2022 Jan 11;12.
Wasim S, Suddaby JS, Parikh M, Leylachian S, Ho B, Guerin A, et al. Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a retrospective study. Rheumatology International [Internet]. 2019 Mar 28 [cited 2019 Jul 11];39(7):1241–8. Available from: https://link.springer.com/article/10.1007/s00296-019-04293-w
Bénistan K, Martinez V. Pain in hypermobile ehlers‐danlos syndrome: New insights using new criteria. American Journal of Medical Genetics Part a. 2019 May 10;179(7).
The Migraine Trust. The State of the Migraine Nation Who is living with migraine in the UK? Rapid research review [Internet]. Migraine Trust. 2020 Jan [cited 2024 Apr 23]. Available from: https://migrainetrust.org/wp-content/uploads/2021/08/State-of-the-Migraine-Nation-population-rapid-review.pdf
Yair Zloof, Simchoni M, Derazne E, Tsur AM, Dorit Tzur, Braun M, et al. Hypermobility spectrum disorders and active migraine in Israeli adolescents: A nationwide study. Headache. 2023 Jun 14;63(7):934–41.
Chiari Malformation [Internet]. NHS UK Conditions. National Health Service; 2022 [cited 2024 Mar 27]. Available from: https://www.nhs.uk/conditions/chiari-malformation
Tam SKP, Chia J, Brodbelt A, Foroughi M. Assessment of patients with a Chiari malformation type I. Brain and Spine. 2022;2:100850.
Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, Geraghty MT. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. The Journal of Pediatrics. 1999 Oct;135(4):494–9.
Tidy C. Postural Orthostatic Tachycardia Syndrome [Internet]. Patient. 2021 [cited 2024 Mar 26]. Available from: available: https://patient.info/doctor/postural-tachycardia-syndrome-PoTS-pro.
Roma M, Marden CL, De Wandele I, Francomano CA, Rowe PC. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome. Autonomic Neuroscience. 2018 Dec;215:89–96.
Mitral Valve Prolapse [Internet]. PennMedicine. PennMedicine; [cited 2024 Mar 26]. Available from: https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/mitral-valve-prolapse
Essayagh B, Sabbag A, Antoine C, Benfari G, Batista R, Yang LT, et al. The Mitral Annular Disjunction of Mitral Valve Prolapse. JACC: Cardiovascular Imaging. 2021 Jun;14(11).
“Understanding Raynaud’s [Internet]. 2018 [cited 2024 Apr 19]. Available from: https://www.sruk.co.uk/media/filer_public/5b/25/5b25678b-177c-4ce4-ad2e-4fb1b8ada855/sruk_understanding_raynauds.pdf
Patel M, Khullar V. Urogynaecology and Ehlers–Danlos syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2021 Nov 20;187(4):579–85.
Mastoroudes H, Giarenis I, Cardozo L, Srikrishna S, Vella M, Robinson D, et al. Lower urinary tract symptoms in women with benign joint hypermobility syndrome: a case–control study. International Urogynecology Journal [Internet]. 2013 Feb 23 [cited 2020 Jan 12];24(9):1553–8. Available from: https://link.springer.com/content/pdf/10.1007%2Fs00192-013-2065-3.pdf
Pearce G, Bell L, Pezaro S, Reinhold E. Childbearing with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders: A Large International Survey of Outcomes and Complications. International Journal of Environmental Research and Public Health. 2023 Oct 21;20(20):6957–7.
Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A. Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study. Orphanet Journal of Rare Diseases. 2016 Sep 13;11(1).
Alrifai N, Laith Alhuneafat, Jabri A, Muhammad Umar Khalid, Xiarepati Tieliwaerdi, Faris Sukhun, et al. Pregnancy and Fetal Outcomes in Patients With Ehlers-Danlos Syndrome: A Nationally Representative Analysis. Current problems in cardiology. 2023 Jul 1;48(7):101634–4.
Castori M, Celletti C, Camerota F, Grammatico P. Chronic fatigue syndrome is commonly diagnosed in patients with Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome. PubMed. 2011 Jul 5;29(3):597–8.
Barron DF, Cohen BA, Geraghty MT, Violand R, Rowe PC. Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls. The Journal of Pediatrics. 2002 Sep;141(3):421–5.
Hakim A, De Wandele I, O’Callaghan C, Pocinki A, Rowe P. Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type. American Journal of Medical Genetics Part C: Seminars in Medical Genetics [Internet]. 2017 Feb 10 [cited 2019 Oct 13];175(1):175–80. Available from: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31542
Voermans NC, Knoop H, van de Kamp N, Hamel BC, Bleijenberg G, van Engelen BG. Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome. Seminars in Arthritis and Rheumatism [Internet]. 2010 Dec 1 [cited 2021 May 5];40(3):267–74. Available from: https://pubmed.ncbi.nlm.nih.gov/19878973/
What is Mast Cell Activation Syndrome? [Internet]. Mast Cell Action. [cited 2024 Mar 27]. Available from: https://www.mastcellaction.org/about-mcas.
Csecs JLL, Iodice V, Rae CL, Brooke A, Simmons R, Quadt L, et al. Joint Hypermobility Links Neurodivergence to Dysautonomia and Pain. Frontiers in Psychiatry. 2022 Feb 2;12.
Cage E, Crompton CJ, Dantas S, Strachan K, Birch R, Robinson M, et al. What are the autism research priorities of autistic adults in Scotland? Autism. 2024 Feb 4;
Buckley C. Autism in adults. InnovAiT: Education and inspiration for general practice [Internet]. 2017 Mar 28;10(6):319–26. Available from: https://doi.org/10.1177%2F1755738016683410
O’Nions E, Petersen I, Joshua E.J. Buckman, Charlton RA, Cooper C, Corbett A, et al. Autism in England: assessing underdiagnosis in a population-based cohort study of prospectively collected primary care data. The Lancet regional health. 2023 Jun 1;29(1):100626–6.
Beggiato A, Peyre H, Maruani A, Scheid I, Rastam M, Amsellem F, Gillberg CI, Leboyer M, Bourgeron T, Gillberg C, Delorme R. Gender differences in autism spectrum disorders: Divergence among specific core symptoms. Autism Research. 2017 Apr;10(4):680-9.
Autism Spectrum Quotient | Embrace Autism [Internet]. Embrace Autism. 2023 [cited 2024 Mar 26]. Available from: https://embrace-autism.com/autism-spectrum-quotient
Song P, Zha M, Yang Q, Zhang Y, Li X, Rudan I. The prevalence of adult attention-deficit hyperactivity disorder: A global systematic review and meta-analysis. Journal of Global Health [Internet]. 2021 Feb 11;11(04009). Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7916320/
Attention Deficit Hyperactivity Disorder [Internet]. NICE. 2023 [cited 2024 Mar 21]. Available from: https://cks.nice.org.uk/topics/attention-deficit-hyperactivity-disorder/background-information/prevalence
Kindgren E, Quiñones Perez A, Knez R. Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study. Neuropsychiatric Disease and Treatment. 2021 Feb;Volume 17:379–88.
Fairman KA, Peckham AM, Sclar DA. Diagnosis and treatment of ADHD in the United States: Update by gender and race. Journal of Attention Disorders. 2020 Jan;24(1):10-9.
Dyslexia - British Dyslexia Association [Internet]. British Dyslexia Association. 2019. Available from: https://www.bdadyslexia.org.uk/dyslexia
Dyscalculia [Internet]. British Dyslexia Association. 2023. Available from: https://www.bdadyslexia.org.uk/dyscalculia
Dyspraxia, or Developmental Coordination Disorder (DCD) [Internet]. Cambridge University Hospitals. [cited 2024 Apr 19]. Available from: https://www.cuh.nhs.uk/our-people/neurodiversity-at-cuh/dyspraxia-or-developmental-coordination-disorder-dcd/
Doherty M, Neilson S, O’Sullivan J, Carravallah L, Johnson M, Cullen W, et al. Barriers to healthcare and self-reported adverse outcomes for autistic adults: a cross-sectional study. BMJ Open [Internet]. 2022 Feb 1;12(2). Available from: https://bmjopen.bmj.com/content/12/2/e056904
Bishop-Fitzpatrick L, Kind AJH. A scoping review of health disparities in autism spectrum disorder. Journal of Autism and Developmental Disorders. 2017 Jul 29;47(11):3380–91.
NHS ENGLAND. NHS England» Clinical guide for front line staff to support the management of patients with a learning disability and autistic people – relevant to all clinical specialties [Internet]. www.england.nhs.uk. 2023 [cited 2024 Mar 27]. Available from: https://www.england.nhs.uk/long-read/clinical-guide-for-front-line-staff-to-support-the-management-of-patients-with-a-learning-disability-and-autistic-people-relevant-to-all-clinical-specialties/
Failla MD, Gerdes MB, Williams ZJ, Moore DJ, Cascio CJ. Increased pain sensitivity and pain-related anxiety in individuals with autism. Pain Reports [Internet]. 2020 Nov 16 [cited 2021 Jan 25];5(6). Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7676593/
Dockrell DM, Berg KM, Ralston SH. Mind the gaps: therapists’ experiences of managing symptomatic hypermobility in Scotland. Rheumatology Advances in Practice. 2021;5(2):rkab046.
Jones JT, Black WR. Provider Knowledge and Experience in Care, Management, and Education of Pediatric Ehlers-Danlos syndrome. Global Pediatric Health. 2022 Jan;9:2333794X2211128.
Rombaut L, Deane J, Simmonds J, De Wandele I, De Paepe A, Malfait F, et al. Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2015 Mar;169(1):76–83.
Estrella E, Frazier PA. Healthcare experiences among adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder in the United States. Disability and Rehabilitation. 2023 Feb 11;46(4):1–10.
Statement: Hypermobility guidelines [Internet]. www.rheumatology.org.uk. 2020 [cited 2024 Apr 1]. Available from: https://www.rheumatology.org.uk/news/details/statement-hypermobility-guidelines
Developmental Rheumatology in children: Scenario: Hypermobility in Children, [Internet]. NICE. 2019 [cited 2024 Apr 1]. Available from: https://cks.nice.org.uk/topics/developmental-rheumatology-in-children/management/hypermobility-in-children/
HMSA Education Model [Internet]. The HMSA. [cited 2024 Apr 19]. Available from: https://www.hypermobility.org/hmsa-education-model
EDS ECHO Healthcare Professionals [Internet]. The Ehlers Danlos Society. [cited 2024 Apr 19]. Available from: https://www.ehlers-danlos.com/eds-echo-healthcare-professionals
Hypermobility | British Society for Rheumatology [Internet]. www.rheumatology.org.uk. [cited 2024 Apr 19]. Available from: https://www.rheumatology.org.uk/events-learning/webinars/hypermobility
Vinney C. What Is Medical Gaslighting? [Internet]. Verywell Mind. 2022 [cited 2024 Apr 19]. Available from: https://www.verywellmind.com/what-is-medical-gaslighting-6831284
Everyone Matters: 2020 Health Workforce Vision [Internet]. Scottish Government. 2013 [cited 2024 Apr 19]. Available from: https://www.gov.scot/publications/everyone-matters-2020-workforce-vision/pages/3/
Booker CL, Andrews L, Green G, Kumari M. Impacts of long-standing illness and chronic illness on working hours and household income in a longitudinal UK study. SSM - Population Health. 2020 Nov;12:100684.
Barnard H. UK Poverty 2017 [Internet]. Joseph Rowntree Foundation. 2017 [cited 2024 Apr 19]. Available from: https://www.jrf.org.uk/report/uk-poverty-2017
Palomo-Toucedo IC, Leon-Larios F, Reina-Bueno M, Vázquez-Bautista M del C, Munuera-Martínez PV, Domínguez-Maldonado G. Psychosocial Influence of Ehlers–Danlos Syndrome in Daily Life of Patients: A Qualitative Study. International Journal of Environmental Research and Public Health. 2020 Sep 3;17(17):6425.
Saffer J, Nolte L, Duffy S. Living on a knife edge: the responses of people with physical health conditions to changes in disability benefits. Disability & Society. 2018 Nov 9;33(10):1555–78.
Barnes MC, Gunnell D, Davies R, Hawton K, Kapur N, Potokar J, et al. Understanding vulnerability to self-harm in times of economic hardship and austerity: a qualitative study. BMJ Open [Internet]. 2016 Feb 1 [cited 2021 Jan 2];6(2):e010131. Available from: https://bmjopen.bmj.com/content/6/2/e010131
McCartney M. The disturbing truth about disability assessments. BMJ. 2012 Aug 8;345(aug08 1):e5347–7.
Lum A, Wakefield CE, Donnan B, Burns MA, Fardell JE, Marshall GM. Understanding the school experiences of children and adolescents with serious chronic illness: a systematic meta-review. Child: Care, Health and Development. 2017 May 23;43(5):645–62.
Bennett SE, Walsh N, Moss T, Palmer S. Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers–Danlos syndrome hypermobility type: a qualitative interview study. Disability and Rehabilitation. 2019 Jul 18;43(6):1–10.
Stangl AL, Earnshaw VA, Logie CH, van Brakel W, C. Simbayi L, Barré I, et al. The Health Stigma and Discrimination Framework: a global, crosscutting framework to inform research, intervention development, and policy on health-related stigmas. BMC Medicine [Internet]. 2019 Feb 15;17(1):1–13. Available from: https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-019-1271-3
Van Brakel WH. Measuring health-related stigma—A literature review. Psychology, Health & Medicine. 2006 Aug;11(3):307–34.
![](http://books.ed.ac.uk/public/presses/1/submission_23_23_coverImage_en_US_t.png)