Ehlers Danlos Syndrome (EDS)
What is EDS?
Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders caused by defects in the synthesis of collagen and connective tissue, affecting skin, bones, blood vessels, and organs. EDS is present at birth, but can often go unrecognized for years, even decades. Patients often present with a "constellation of symptoms" as they age that can make this elusive syndrome difficult for the untrained eye to recognize. Diagnosis of EDS includes an assessment of patients' hypermobility using the Beighton Scale, a thorough patient and family history, and possibly genetic testing.
There are currently 13 types of EDS defined by the EDS Society's 2017 classification system. 12 of the 13 defined types are caused by specific known gene variants that require genetic testing for definitive diagnosis. Unfortunately, not all of the genes responsible for causing EDS have been found or officially added to the classification system yet. Therefore, the Hypermobile type (hEDS), the most common form of EDS, includes individuals who meet other EDS diagnostic criteria but lack a known gene variant.
Current research is focused on identifying and defining currently unclassified genetic variants that cause EDS. For further questions about the new 2017 classifications, please see the EDS Society's 2017 Classification FAQ.
Nearly all types of EDS share the symptoms of hypermobility and joint laxity. Other symptoms include but are not limited to soft fragile skin, easy bruising, slow healing, vascular abnormalities, autonomic dysfunction, and more. EDS is a spectrum disorder, meaning that symptom severity varies by type and in each individual patient. Each type can cause minor to severe deficits in joint, tissue, organ, and skin integrity and may impact patients' overall quality of life. Vascular type (vEDS), the most severe form of EDS, is life shortening with the majority of individuals only living into their forties. Other forms, such as Hypermobile type (hEDS), the most common form of EDS, are not considered life shortening but can be severe in certain individuals.
What does EDS have to do with Dysautonomia?
Numerous studies have shown that EDS patients can experience a variety of different symptoms of dysautonomia at higher rates than the general population. Two of the most common types of autonomic dysfunction experienced by EDS patients include Orthostatic Intolerance (OI) and Postural Orthostatic Tachycardia (POTS). A variety of gastrointestinal symptoms are reported in EDS populations including acid reflux, IBS, gastroparesis, and more. Patients can also experience speech, voice, and swallowing difficulties. Mast Cell Activation Disorder also can cause a variety of difficulties for EDS patients, including many of the aforementioned issues.
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