EDS in Depth
Q&A about Ehlers-Danlos Syndromes
by Andrea Julian, EDS patient & support group leader
What are the Ehlers-Danlos Syndromes?
The Ehlers Danlos Syndromes (EDS) are a group of heritable connective tissue disorders generally characterized by poor wound healing, hypermobile joints, and soft velvety skin. There are currently 13 distinctive types of EDS, the most common being Hypermobile Ehlers Danlos Syndrome (hEDS).
Symptoms and complications overlap a lot among the different types of EDS and even other connective tissue disorders such as Marfans Syndrome or Loeys Dietz, therefore it is important to have genetic testing done, when available, to confirm diagnosis. (There is currently no genetic test for hEDS).
What are the symptoms of EDS?
Symptoms vary greatly, even among siblings. Not everyone will have the symptoms listed below, and some will have them worse than others. This is in no way meant to be a complete or perfect list of symptoms, and is not intended for diagnostic purposes.
Joint Hypermobility- subluxations, dislocations, double-jointedness, joint instability, early onset arthritis
Skin hyper-extensibility- soft velvety skin, poor wound healing, severe scarring and easy bruising
Chronic pain- early onset musculoskeletal pain, small fiber neuropathy, fibromyalgia
Organ fragility- uterine and hollow organ rupture
Posture dysfunction- primarily Lordosis, Kyphosis and Scoliosis
TMJ dysfunction- popping, clicking and freezing of jaw as well as facial, ear and head pain
Dysautonomia- typically, but certainly not always, POTS
Gastro-intestinal dysfunction- food intolerances and allergies, gastroparesis, EoE, irritable bowel
Psychological complications- ADHD, depression, anxiety, eating disorders
Poor proprioception- Clumsy, poor balance, fidgety
Cardiovascular- aortic root dilation, Mitral valve prolapse, Raynauds Phenomenon
Mast Cell Activation Disorder- Severe, and sometimes strange, allergic reactions
What are the different types of EDS?
Classical EDS (cEDS) Kyphoscoliotic EDS (kEDS)
Classical like EDS (clEDS) Brittle Cornea Syndrome (BCS
Cardiac Valvular EDS (cvEDS) Spondylosplastic EDS (spEDS)
Myopathic EDS (mEDS) Arthrochalasia EDS (aEDS)
Periodontal EDS (pEDS) Dermatosparaxis EDS (dEDS)
Vascular EDS (vEDS) Musculocontractural EDS (mcEDS)
Hypermobile EDS (hEDS)
All listed types of EDS, except for hEDS, have a known genetic basis
Is there a cure?
There is currently no cure for EDS but it is extremely important to manage your symptoms properly and take precautions as needed. Many treatments are available to help with the different symptoms of EDS, such as Physical, Occupational and Psychiatric therapies. Optimized nutrition and a corrective exercise program designed specifically for hypermobility, lack of proprioception and muscle dysfunction are beneficial as well. Specialists such as cardiologists, pain management specialists, neurologists and orthopedic surgeons are needed by some patients. It is also helpful to have a primary care doctor willing to facilitate your needs and manage your care plan.
Why the Zebra?
Doctors are often trained to “think horses, not zebras, when you hear hoof beats”. Horses being a common disease (arthritis, the flu, etc). A zebra representing the less expected possibility (EDS, Marfans, etc). Although EDS isn’t as rare as once thought, the Zebra has remained the mascot.
What is Hypermobility Spectrum Disorder
Hypermobility Spectrum Disorder, HSD, was introduced at the 2017 EDS Consortium to assist in the diagnostic process of hEDS and ensure proper care of those suffering a disorder with no known genetic marker. With the addition HSD it is now easier for family physicians to make the diagnosis without need of a specialist. It will also help to get patients proper care without an EDS diagnosis. The spectrum ranges from hypermobile with no symptoms, to full blown hypermobile EDS.
Types of HSD
Generalized HSD- General joint hypermobility with little to no other symptoms
Peripheral HSD- Joint hypermobility is primarily found in the hands and feet, with 1-2 other manifestations
Localized HSD- Hypermobility in a single joint or group of joints
Historical HSD- Hypermobility that was present earlier in life but without a positive Beighton Score now. This could be due to arthritis or corrective surgeries.
Generalized, Peripheral and Localized HSD can all be asymptomatic.
Is Ehlers-Danlos Syndrome rare – or just rarely diagnosed?
Only 5% of Ehlers-Danlos Syndrome (EDS) sufferers are correctly diagnosed*. It’s been estimated that EDS affects more than 1 in 5,000 people worldwide. But, experts think that’s conservative. Each year in the US, 650,000* additional sufferers are un-diagnosed or misdiagnosed due to physician oversight or lack of knowledge about EDS. (*Estimate is according to a study in the UK by Dr. Rodney Grahame.)
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Healthcare providers training at: EDS Physician CME Education