Abstract
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.
Highlights
Ehlers Danlos Syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders characterized by the abnormal formation and/or assembly of collagen, fibrillin and elastin in the body [1]
While some individuals born with EDS remain asymptomatic for their entire lives, many develop a myriad of symptoms, including generalized chronic pain [4], cognitive dysfunction, chronic fatigue and exhaustion [9], gastrointestinal symptoms [2], autoimmune dysfunction [10], orthostatic intolerance syndromes [11], respiratory symptoms and complications [12], abnormal degranulation of mast cells [13], and vestibular and proprioceptive disturbances [14]
The diagnosis of EDS continues to be a road that is challenging to navigate for patients
Summary
Ehlers Danlos Syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders characterized by the abnormal formation and/or assembly of collagen, fibrillin and elastin in the body [1]. While some individuals born with EDS remain asymptomatic for their entire lives, many develop a myriad of symptoms, including generalized chronic pain [4], cognitive dysfunction, chronic fatigue and exhaustion [9], gastrointestinal symptoms [2], autoimmune dysfunction [10], orthostatic intolerance syndromes [11], respiratory symptoms and complications [12], abnormal degranulation of mast cells [13], and vestibular and proprioceptive disturbances [14] These symptoms range in severity, from mildly impairing to severely disabling, leaving some people with EDS unable to work, attend school, or participate in social events [15]. Despite the severe impact of EDS, the nature and causes of multi-system dysfunction in EDS are not well understood; a small but growing body of research on EDS/HSD suggests the etiology and pathophysiology are complex and multifactorial
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