Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome.
diagnostic impact
emotional impact
hypermobile Ehlers–Danlos syndrome (hEDS)
lived experience
psychosocial impact
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
28 Mar 2024
28 Mar 2024
Historique:
revised:
24
01
2024
received:
20
09
2023
accepted:
16
03
2024
medline:
28
3
2024
pubmed:
28
3
2024
entrez:
28
3
2024
Statut:
aheadofprint
Résumé
Hypermobile Ehlers-Danlos syndrome (hEDS) presents with a wide range of clinical symptoms and comorbidities that impact quality of life. The diagnosis is challenging and often delayed due to the heterogeneity of the disease and lack of diagnostic biomarkers, which adds to the disease burden by affecting patients' psychosocial adaptation and overall well-being. Previous studies have revealed that healthcare professionals and the public have a limited understanding and familiarity with the condition, which leads to disapproval and skepticism that greatly impact patients' social spheres and welfare. While physical manifestations have been widely discussed, the psychosocial impact and the importance of receiving a diagnosis have not been fully studied in the current literature. This survey study investigated the impact of diagnosis in hEDS patients, selected from the University of Miami's hEDS registry. Survey questions were formulated based on clinical expertise and literature review. Descriptive statistics, Mann-Whitney test, and Spearman's correlation were used for data analysis. The median age at symptom presentation was 10 years, with a median gap of 4 years before the initial medical evaluation. On average, it took 10 years to receive a diagnosis of hEDS. Nearly all participants (95.2%) expressed receiving a diagnosis as "important" or "highly important," with 81.9% agreeing that it helped them cope with their condition better, 76.8% could better manage their symptoms, and felt more in control of their long-term care. Participants mostly had a positive emotional reaction and experienced an improvement in the support they were receiving from their caregivers and healthcare providers after receiving a diagnosis of hEDS. This study demonstrates that receiving a diagnosis could positively impact the patient's support, quality of care, and overall well-being.
Identifiants
pubmed: 38545882
doi: 10.1002/ajmg.a.63613
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63613Informations de copyright
© 2024 Wiley Periodicals LLC.
Références
Anderson, L. K., & Lane, K. R. (2021). The diagnostic journey in adults with hypermobile Ehlers‐Danlos syndrome and hypermobility spectrum disorders. Journal of the American Association of Nurse Practitioners, 34(4), 639–648. https://doi.org/10.1097/jxx.0000000000000672
Baeza‐Velasco, C., Gély‐Nargeot, M. C., Bulbena Vilarrasa, A., & Bravo, J. F. (2011). Joint hypermobility syndrome: Problems that require psychological intervention. Rheumatology International, 31(9), 1131–1136. https://doi.org/10.1007/s00296-011-1839-5
Bennett, S. E., Walsh, N., Moss, T., & Palmer, S. (2021). Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers‐Danlos syndrome hypermobility type: A qualitative interview study. Disability and Rehabilitation, 43(6), 795–804. https://doi.org/10.1080/09638288.2019.1641848
Berglund, B., Pettersson, C., Pigg, M., & Kristiansson, P. (2015). Self‐reported quality of life, anxiety and depression in individuals with Ehlers‐Danlos syndrome (EDS): A questionnaire study. BMC Musculoskeletal Disorders, 16, 89. https://doi.org/10.1186/s12891-015-0549-7
Bovet, C., Carlson, M., & Taylor, M. (2016). Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers‐Danlos syndrome hypermobility type/joint hypermobility syndrome. American Journal of Medical Genetics. Part A, 170(8), 2044–2051. https://doi.org/10.1002/ajmg.a.37774
De Baets, S., De Temmerman, M., Calders, P., Malfait, F., Van Hove, G., Vanderstraeten, G., De Wandele, I., & Van de Velde, D. (2022). The impact of hypermobile “Ehlers‐Danlos syndrome” and hypermobile Spectrum disorder on interpersonal interactions and relationships. Frontiers in Rehabilitation Sciences, 3, 832806. https://doi.org/10.3389/fresc.2022.832806
Demmler, J. C., Atkinson, M. D., Reinhold, E. J., Choy, E., Lyons, R. A., & Brophy, S. T. (2019). Diagnosed prevalence of Ehlers‐Danlos syndrome and hypermobility spectrum disorder in Wales, UK: A national electronic cohort study and case‐control comparison. BMJ Open, 9(11), e031365. https://doi.org/10.1136/bmjopen-2019-031365
Esquivel‐Sada, D., & Nguyen, M. T. (2018). Diagnosis of rare diseases under focus: Impacts for Canadian patients. Journal of Community Genetics, 9(1), 37–50. https://doi.org/10.1007/s12687-017-0320-x
Estrella, E., & Frazier, P. A. (2023). Healthcare experiences among adults with hypermobile Ehlers‐Danlos syndrome and hypermobility spectrum disorder in the United States. Disability and Rehabilitation, 1‐10, 731–740. https://doi.org/10.1080/09638288.2023.2176554
Kalisch, L., Hamonet, C., Bourdon, C., Montalescot, L., de Cazotte, C., & Baeza‐Velasco, C. (2020). Predictors of pain and mobility disability in the hypermobile Ehlers‐Danlos syndrome. Disability and Rehabilitation, 42(25), 3679–3686. https://doi.org/10.1080/09638288.2019.1608595
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Backer, J., De Paepe, A., Fournel‐Gigleux, S., Frank, M., Ghali, N., … Tinkle, B. (2017). The 2017 international classification of the Ehlers‐Danlos syndromes. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 175(1), 8–26. https://doi.org/10.1002/ajmg.c.31552
Mu, W., Muriello, M., Clemens, J. L., Wang, Y., Smith, C. H., Tran, P. T., Rowe, P. C., Francomano, C. A., Kline, A. D., & Bodurtha, J. (2019). Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders. American Journal of Medical Genetics. Part A, 179(4), 561–569. https://doi.org/10.1002/ajmg.a.61055
Palomo‐Toucedo, I. C., Leon‐Larios, F., Reina‐Bueno, M., Vázquez‐Bautista, M. D. C., Munuera‐Martínez, P. V., & Domínguez‐Maldonado, G. (2020). Psychosocial influence of Ehlers‐Danlos syndrome in daily life of patients: A qualitative study. International Journal of Environmental Research and Public Health, 17(17), 6425. https://doi.org/10.3390/ijerph17176425
Read, C. Y., Perry, D. J., & Duffy, M. E. (2005). Design and psychometric evaluation of the psychological adaptation to genetic information scale. Journal of Nursing Scholarship, 37(3), 203–208. https://doi.org/10.1111/j.1547-5069.2005.00036.x
Spillmann, R. C., McConkie‐Rosell, A., Pena, L., Jiang, Y. H., Schoch, K., Walley, N., Sanders, C., Sullivan, J., Hooper, S. R., & Shashi, V. (2017). A window into living with an undiagnosed disease: Illness narratives from the undiagnosed diseases network. Orphanet Journal of Rare Diseases, 12(1), 71. https://doi.org/10.1186/s13023-017-0623-3
The Ehlers‐Danlos Society. (n.d.). Are the Ehlers‐Danlos syndromes and hypermobility Spectrum disorders rare or common? Retrieved December 26, 2023, from https://www.ehlers-danlos.com/is-eds-rare-or-common/