The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital

Orphanet Journal of Rare Diseases

Christopher J. Nielson¹  Christian Veillette¹  Laura Lopez-Hernandez²  Lianne McLean²  Camille Laflamme²  George Charames²  Laura Hussey²  Sandra Tavares²  Stephanie Varriano²  Laura McGillis²  Maxim Rachinsky³  Aliza Weinrib⁴  Joel Katz⁵  Hance Clarke⁶  Juan Guzman⁷  P. Maxwell Slepian⁸  Arnon Adler⁹  Colleen Parker^1,10  Louis Liu^1,10  Yvonne Tse^1,10  Stephanie Buryk-Iggers^1,11  Daniel Santa Mina^1,12  Hanna Faghfoury^1,13  Nimish Mittal^1,14  Dmitry Rozenberg^1,15  Robert Bleakney^1,16 

[1] Department of Surgery, Division of Orthopedics, University of Toronto, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Department of Anaesthesiology and Pain Medicine, University Health Network, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Department of Anaesthesiology and Pain Medicine, University Health Network, Toronto, ON, Canada;Department of Psychology, York University, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Department of Anaesthesiology and Pain Medicine, University Health Network, Toronto, ON, Canada;Department of Psychology, York University, Toronto, ON, Canada;University of Toronto Centre for the Study of Pain, University of Toronto, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Department of Anaesthesiology and Pain Medicine, University Health Network, Toronto, ON, Canada;University of Toronto Centre for the Study of Pain, University of Toronto, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Department of Medicine, McMaster University, Hamilton, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Department of Psychology, York University, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Division of Cardiology, Peter Munk Cardiac Centre, University Health Network, University of Toronto, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Division to Temerty Faculty of Medicine, Division of Gastroenterology, University Health Network, University of Toronto, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Faculty of Kinesiology and Physical Education, University of Toronto, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Faculty of Kinesiology and Physical Education, University of Toronto, Toronto, ON, Canada;Department of Anaesthesiology and Pain Medicine, University Health Network, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Temerty Faculty of Medicine, Division of Medical Genetics, University of Toronto, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Temerty Faculty of Medicine, Division of Physical Medicine and Rehabilitation, University of Toronto, Toronto, ON, Canada;Faculty of Kinesiology and Physical Education, University of Toronto, Toronto, ON, Canada;Department of Anaesthesiology and Pain Medicine, University Health Network, Toronto, ON, Canada;GoodHope Ehlers Danlos Syndrome Program, Toronto General Hospital, 200 Elizabeth Street, M5G 2C4, Toronto, ON, Canada;Temerty Faculty of Medicine, Division of Respirology, Ajmera Transplant Program, Toronto General Hospital Research Institute, UHN, University of Toronto, Toronto, ON, Canada;Joint Department of Medical Imaging, University of Toronto, Toronto, ON, Canada;

关键词: Ehlers Danlos Syndrome;    Hypermobility spectrum disorders;    Connective tissue disorders;    Diagnosis and treatment;   

DOI  :  10.1186/s13023-021-01962-7

来源: Springer

【 摘 要 】

Ehlers-Danlos Syndrome (EDS) are a heterogeneous group of genetic connective tissue disorders, and typically manifests as weak joints that subluxate/dislocate, stretchy and/or fragile skin, organ/systems dysfunction, and significant widespread pain. Historically, this syndrome has been poorly understood and often overlooked. As a result, people living with EDS had difficulty obtaining an accurate diagnosis and appropriate treatment, leading to untold personal suffering as well as ineffective health care utilization. The GoodHope EDS clinic addresses systemic gaps in the diagnosis and treatment of EDS. This paper describes a leap forward—from lack of awareness, diagnosis, and treatment—to expert care that is tailored to meet the specific needs of patients with EDS. The GoodHope EDS clinic consists of experts from various medical specialties who work together to provide comprehensive care that addresses the multi-systemic nature of the syndrome. In addition, EDS-specific self-management programs have been developed that draw on exercise science, rehabilitation, and health psychology to improve physical and psychosocial wellbeing and overall quality of life. Embedded into the program are research initiatives to shed light on the clinical presentation, underlying mechanisms of pathophysiology, and syndrome management. We also lead regular educational activities for community health care providers to increase awareness and competence in the interprofessional management of EDS beyond our doors and throughout the province and country.

【 授权许可】

CC BY