What is EDS?
A Patient Advocate's Perspective and Summary
The Ehlers–Danlos Syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs). Connective tissue binds, supports and separates tissues and organs throughout the body and impacts body functions. It provides strength and elasticity and can be found almost anywhere in the body including skin, muscles, tendons and ligaments, blood vessels and other areas.
The connective tissue of a person with EDS is not built the way it should so some parts of the body can be pulled beyond normal limits which can cause damage. It is similar to a house built with faulty materials, it can fall apart over time - especially if exposed to high winds or other environmental factors. Because the materials are used everywhere and not initially visible, surprising problems can show up anywhere at any time, some more serious than others. This is the same with EDS.
EDS and its associated symptoms can be mild to severe, varying for each person according to their own life stressors or other genetic influences. There can be different levels of impacts within a family, and each person’s case of Ehlers-Danlos syndrome will be unique. Symptoms can be progressive and may result in widespread damage throughout the body that might seem unrelated. It may be difficult for doctors to “connect the dots” from their individual data points so the EDS diagnosis may remain elusive.
EDS can evolve over time in 3 phases. During the first "hypermobile phase" joints are most flexible which can result in sprains, dislocations and pain. During the second "pain phase" symptoms become more widespread with progressively worse musculoskeletal pain. The final "stiff phase" in later years results in reduction of joint hypermobility and functionality due to pain, fatigue, prior injuries and arthritis.
EDS requires early diagnosis and coordinated care with many specialists well versed in the complexities of EDS. Unfortunately many clinicians and health care professionals have not been trained to recognize, understand or treat these conditions. This is tragic since early diagnosis and intervention can lessen disease progression, reduce disability, significantly improve quality of life and potentially save lives.
Currently, there are 14 subtypes of EDS which can share some similarities including joint hypermobility, skin hyperextensibility, and tissue fragility. Genetic markers have been found for 13 out of the 14 subtypes. Although the 13 subtypes with genetic markers are considered rare, the one subtype without genetic markers, called hypermobile Ehlers-Danlos Syndrome (hEDS), may be more prevalent.
Unfortunately, most EDS patients have many challenges such as musculoskeletal issues (unstable joints resulting in subluxations and dislocations, tendonitis, muscle spasms and sprains) and significant pain throughout the body. Pain can be muscular (aching, throbbing and stiffness), neuropathic (burning, shooting, tingling, electric, numbness) or osteoarthritic (aching pain and stiffness in joints).
Each of the 14 subtypes has its own combination of unique diagnostic criteria and clinical manifestations. The diagnosis of EDS and identification of subtypes is best determined by a clinician knowledgeable about connective tissue disorders. Patients are often referred to geneticists, since they are most able to determine the subtypes and provide verification through genetic testing.