The Ehlers-Danlos Syndromes (EDS)

What are the Ehlers-Danlos Syndromes

The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders. These disorders are generally categorized by tissue fragility, joint hypermobility (joints that stretch more than normal), and skin hyperextensibility (skin that stretches more than normal). There are currently 13 subtypes of EDS. Although EDS is not curable, it is treatable. Tests are necessary to determine what subtype of EDS you have, in order to better manage the symptoms.

What are the different Subtypes of EDS

An EDS subtype is determined by finding the syndrome that matches most to a person’s symptoms. It is important to recognize that since there is symptom overlap with EDS, each person may experience EDS in a way that is unique to them.

A general criteria of each subtype:

1. Classical EDS (cEDS): Skin hyperextensibility and scarring, generalized joint hypermobility.
2. Classical-like EDS (clEDS): Skin hyperextensibility, generalized joint hypermobility, easily bruised skin or dislocation of skin, muscle weakness.
3. Cardiac-valvular EDS (cvEDS): Severe cardiac-valvular problems, skin hyperextensibility, joint hypermobility.
4. Vascular EDS (vEDS): Family history of vEDS, Arterial rupture at a young age, Colon or other bowel issues, uterine rupture during pregnancy, carotid-cavernous sinus fistula (CCSF).
5. Hypermobile EDS (hEDS) Joint hypermobility, dislocations/fractures, mild skin hyperextensibility, fatigue, anxiety.
6. Arthrochalasia EDS (aEDS): Congenital bilateral hip dislocation, severe joint hypermobility, dislocations/fractures, skin hyperextensibility.
7. Dermatosparaxis EDS (dEDS): Doughy skin, skin fragility/sagging, easy bruising, joint hypermobility.
8. Kyphoscoliotic EDS (kEDS): Decreased muscle tone at birth (Congenital hypotonia), congenital or early onset kyphoscoliosis, joint hypermobility, hip and knee dislocations/fractures.
9. Brittle Cornea Syndrome (BCS): Thin cornea, keratoconus, keratoglobus, blue sclera, joint hypermobility, skin hyperextensiblity, hearing defects, dental abnormalities.
10. Spondylodysplastic EDS (spEDS): Short stature, muscle hypotonia, bowing of limbs, joint hypermobility, flat feet, thin skin.
11. Musculocontractural EDS (mcEDS): Congenital contractures, clubfoot, characteristic craniofacial features, increased palmar wrinkling, skin hyperextensibility.
12. Myopathic EDS (mEDS): Congenital hypotonia that improves with age, knee, hip, and elbow contractures, hypermobility of distal joints (joints at the finger tips).
13. Periodontal EDS (pEDS): Severe periodontitis, teeth loss, lack of attached gingiva, pretibial plaque, family history of pEDS.

How do I know if I have EDS

The path to an EDS diagnosis generally starts with physical testing. The Beighton Scale is used to determine how flexible a persons joints are. Skin tests are performed to evaluate the elasticity the skin and its ability to form abnormal scarring or bruising. Medical history exams are normally conducted to dig deeper into a patient’s family history of hypermobility or EDS diagnosis. Further more, various forms of molecular tests may also be conducted. To be thoroughly diagnosed with a specific variant of these genetic disorders, one must visit a genetic specialist.

What do I do After I am Diagnosed with EDS

The most important thing to do after you are diagnosed with EDS is to learn how to manage your symptoms. As stated above, EDS is not curable but it is manageable. Millions of people, including celebrities like Shakira and Michael Jackson, learned how to cope with their EDS and you can too. Don’t be afraid to ask a doctor or specialist for help with your specific symptoms, and remember to look for support groups like Lax Bones for answers to questions you may need answers to.