The GoodHope Ehlers Danlos Syndrome Clinic: Toronto General Hospital

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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

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.

Background

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]. Defects in these connective tissue fibres can result in multi-systemic manifestations, ranging from loose, painful joints and abnormal stretchy, fragile skin to life-threatening complications [2,3,4]. Historical data estimates the combined prevalence in adults to be approximately 1 in 5000 [5], with subtype prevalence varying from 1 in 20,000 individuals in classical EDS [6] to 1 in 50,000 in vascular EDS [7]. Recent studies have raised the question of underestimation and have suggested a potentially higher prevalence in the general population [8]. Given the lack of awareness, understanding and expertise of health care providers in EDS, many cases are likely undiagnosed, resulting in probable under-reporting of this disorder, and its actual prevalence may be higher than reported in the current literature [8].

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; however, a small but growing body of research on EDS/HSD suggests the etiology and pathophysiology are complex and multifactorial.

Challenges with diagnosis and treatment

Medical education on EDS has historically been minimal, thus there is a lack of knowledge and expertise to diagnose this condition. As clinicians have struggled to arrive at a diagnosis and find effective treatment options for people with EDS, research has shown that these patients feel invalidated and defeated, and often have a long history of engagement with the medical system [16]. It is common for patients to spend many years navigating the health care system in search of care, and reports estimate that the average time to diagnosis ranges from 4 to 16 years [17]. Moreover, there has been a history of health care professionals discounting patients’ symptoms and attributing them to psychological problems, as the different symptoms in multiple systems were often not united under a unifying diagnosis [16]. Despite several revisions to the EDS classification, many patients do not fit the current diagnostic categories in a clear-cut fashion and continue to struggle in their quest for a diagnosis [18]. Patients’ exhaustive search for care is associated with increased health services utilization and adverse health outcomes secondary to delayed diagnosis and intervention [19]. It is within this context that the need for the GoodHope Ehlers Danlos Syndrome Clinic arose.

Rare complex medical disorders like EDS have always struggled with inadequate health care provisions. Multisystemic needs of persons living with EDS require care from multiple practitioners and poses a challenge of care coordination. Further, the typical treatment approaches designed to treat common conditions may not be relevant to individuals with EDS as they have structurally defective connective tissue that forms building blocks of nearly every organ system in the body. Globally, the care of individuals with EDS has been fragmented without a centralized clinic, and there is a lack of specialized interdisciplinary programs to address this health care and knowledge gap in EDS. The GoodHope EDS clinic at the Toronto General Hospital is the first unique one stop interdisciplinary model of health care delivery that could serve as a template to other Canadian provinces and interested cities internationally looking to improve the care for this complex population.

Establishment of the GoodHope EDS clinic

Advocacy efforts by people living with EDS in Ontario, Canada, led to the creation of the Ehlers-Danlos Syndrome Expert Panel at the request of the provincial Ministry of Health and Long-Term Care (MOHLTC) in July of 2015. People in Ontario living with EDS gave voice to their complex healthcare needs and identified the lack of specialized care in Canada[20]. The panel expressed their concern with the lack of knowledge of EDS among health care providers, the lack of sufficient practitioners with expertise in the management of all EDS variants, and challenges related to health care continuity and interdisciplinary collaboration in practice.

Based on the expert panel report, the MOHLTC announced provincial funding to open one adult and one pediatric EDS clinic in Toronto as part of the “Patients First: Action Plan for Health Care” [21]. The adult EDS clinic opened in 2017 under the the Rare Diseases umbrella at the Toronto General Hospital, part of the University Health Network. In addition to provincial support, the GoodHope EDS clinic received philanthropic support to develop a pioneering program of EDS research.

The catchment area for treatment eligibility in the GoodHope EDS Clinic encompasses the entire geographic area of Ontario—a Canadian province of over 14 million people in a geographic area larger than France (Fig. 1). To date, more than 1,000 patients have been assessed for possible EDS/HSD. The EDS clinic continues to follow approximately 400 patients that were confirmed to meet the criteria for a diagnosis of EDS or Generalized Hypermobility Spectrum Disorders (G-HSD). For these patients, key goals include the timely delivery of expert, specialized, multi-systemic, and biopsychosocial health care.

Conclusions

The diagnosis of EDS continues to be a road that is challenging to navigate for patients. The goal of Goodhope EDS clinic is to transform the diagnosis and management of EDS from one that is fraught with misunderstanding and confusion to a process that is refined and scientifically grounded. The GoodHope EDS clinic is based on the principle that a comprehensive, humanistic, interdisciplinary, evidence-based approach that empowers psychological and functional health is the path forward to helping the entire spectrum of people living with EDS.

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