Ehlers-Danlos Syndromes (EDS) & Hypermobility Spectrum Disorders (HSD)
Providing Support & Resources about Connective Tissues Disorders:
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndromes are considered rare connective tissue and collagen disorders with 14 different sub-types, the majority of which can be diagnosed through genetic testing. All types have a genetic mutation. The Hypermobility type of EDS (HEDS) is the only type that has not yet been traced to a specific genetic mutation and requires a clinical diagnosis based on specific guidelines provided below. For those who do not meet the criteria for HEDS, a diagnosis of Hypermobility Spectrum Disorder (HSD) is used.
Connecting Issues to Connective Tissues
Connective tissues are held together throughout our body using collagen. Since Ehlers-Danlos syndromes (EDS) and Hypermobility Spectrum Disorders (HSD) are caused by genetic collagen mutations, it makes sense that any deficits would cause issues wherever there is a break-down in collagen. This is also the reason that symptoms vary widely.
When thinking about EDS, remember:
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Collagen holds together connective tissues.
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Collagen is found in over 20% of our bodies, including muscles, ligaments, organs, soft tissue and nervous system.
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Collagen mutations vary based on the specific gene mutation found in each individual.
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All types of Ehlers-Danlos syndromes have symptoms of hypermobility.
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Symptoms vary based on where the damage is located for each individual.
EDS and Hypermobility
Connective tissue is the glue that holds your body together. Ehlers-Danlos syndromes are a group of inherited disorders that affect the body's connective tissue due to improper collagen formation. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility.
There are several different types of EDS; however the most common are hypermobile, classical, and vascular. According to the Ehlers-Danlos Society, at this time, research statistics of the Ehlers-Danlos syndromes show the total prevalence as 1 in 2,500 to 1 in 5,000 people. Clinical experience suggests that Ehlers-Danlos syndrome may be more common. The conditions are known to affect both males and females of all racial and ethnic backgrounds.
Some individuals may be diagnosed with Hypermobility Spectrum Disorder (HSD) or Joint Hypermobility (JH) if they don't meet the full criteria for EDS; however the Ehlers Danlos Society has acknowledged that whatever the diagnosis, the problems equal in severity and require similar management, validation, and care.
Symptoms
Symptoms vary greatly in intensity and location based on the severity of the condition and type of genetic mutation. However, hypermobility occurs in all patients with Ehlers-Danlos syndromes and Hypermobility Spectrum disorders to some extent. A list of common symptoms are listed below:
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Joint instability, subluxations, dislocations.
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Soft tissue injury, such as sprains and tears. Skin tearing, stretching, scarring, slow healing.
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Joint deterioration/disease (arthritis).
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Chronic pain, inflammation and fatigue associated with everything above.
Comorbidities
There are a variety of comorbidity conditions that are commonly found in EDS and HSD patients. There are a many hypothesis' about why this occurs, but for now, it is important to be aware of these issues and seek specialized care when necessary.
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Dysautonomia: Orthostatic Intolerances, Irregular Heart Rate,
Brain Fog, Migraines, Syncope.
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Gastrointestinal Issues such as Irritable Bowel Syndrome and Gastroparesis
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Mast Cell Activation Syndrome (MCAS), Histamine Intolerances, Allergies and Sensitivities (Gluten, Dairy, Nuts)
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Autoimimmune Conditions such as Lupus, Rheumatoid Arthritis, Psoriasis and more.
Diagnostic Resources and Tools
Click to access the Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS) This diagnostic checklist is for doctors across all disciplines to be able to diagnose EDS.
Please refer to this official documentation outlining the sub-classes for each type of EDS, along with genetic basis for each.
The Beighton Scale is the current diagnostic tool used to access joint hypermobility. Click the link to access this document and share with your medical provider.