The GoodHope EDS Clinic at UHN is a multi-disciplinary health care service to diagnose and treat patients with Ehlers-Danlos Syndrome (EDS).
What is Ehlers-Danlos Syndrome?
There are 13 different types of EDS. Hypermobile EDS (hEDS) is by far the most common type and does not have a genetic mutation identified at this time. The other 12 types of EDS are much rarer and have a genetic mutation identified with them. Diagnosis of EDS requires a thorough assessment by an experienced practitioner. Genetic testing is only required for patients who meet the clinical criteria for one of the rarer types of EDS.
EDS is a multi-system disorder giving rise to multiple symptoms affecting health and quality of life to varying degrees. Presently, there is no cure.
The Spectrum of Hypermobility
Hypermobility is a genetic trait and exists along a continuum. Hypermobility can be congenital (you are born with it) or acquired (developed over time) and is multifactorial in nature. Joint hypermobility is not always secondary to an underlying connective tissue disorder. Hypermobility is common in the general population (approximately 15-20%) and can affect 1 to 2 joints (localized joint hypermobility) to multiple joints (generalized joint hypermobility). The medical team will assess if a patient has generalized joint hypermobility and whether or not that hypermobility is caused by an underlying connective tissue disorder. The spectrum of hypermobility ranges from asymptomatic hypermobility to hypermobile EDS (hEDS) with generalized hypermobility spectrum disorder (G-HSD) acting as a bridge between these conditions.
Individuals with symptomatic generalized joint hypermobility who present with specific musculoskeletal manifestations and/or inherited connective features who do not meet the 2107 EDS nosology may now be labelled as having generalized hypermobility spectrum disorders (G-HSD). G-HSD and hEDS can be equal in severity and require the same level of management, validation and care.
What Causes Ehlers-Danlos Syndrome?
Collagen is a protein that provides flexibility and strength to the body tissues. Defective production or maturation of collagen in the body due to a gene defect causes Ehlers-Danlos Syndrome. The faulty gene can be inherited from the parent but can also occur for the first time in a person. This results in the formation of abnormal or weak collagen that is unable to support the body organs and other tissues.
Signs & Symptoms
Please see
Signs and Symptoms tab.
Diagnosis & Treatment
The route to diagnosis may depend on several factors. The pathway begins with an assessment of how mobile the joints are in comparison with the general population, identification of abnormal scarring and stretchy skin and recognition of other medical issues associated with EDS.
If your referral has been accepted, wait times for initial assessment may be up to two years.
During this time you should work with your primary care team to manage your symptoms (see
Health Information tab for more details).
Diagnostic assessments take up to 2.5 hours and may be broken into two parts. You will be required to undergo a detailed review of your past medical history and a physical examination to assess for features of EDS.
Genetic testing is not required to diagnose hypermobile EDS. Genetic testing will only be offered if an individual meets the minimum clinical criteria for a rarer form of EDS.
The GoodHope EDS clinic is a specialist, consultative program, which will assess patients for a diagnosis of EDS/G-HSD. Our team provides diagnosis and self-management support, but day-to-day care will remain with the patient's primary care teams. We are unable to support urgent care requests or take over ongoing management of patients.
How to Prepare
Please bring copies of reports related to any genetic testing and associated consultations.
Initial assessments may be broken into two parts:
- A virtual appointment to review past medical history and symptoms
- An in-person physical examination
Learn more about
what you can expect when you have a clinic appointment.
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The first of its kind in Canada, the GoodHope Ehlers-Danlos Syndrome Clinic at Toronto General Hospital offers patients coordinated care from a wide spectrum of specialists and is a single point of contact for those living with this illness. All donations to the Clinic ensure advocacy efforts, patient and caregiver education initiatives, and vital research is undertaken to meet the needs of this unique and often misunderstood patient population.