Ehlers Danlos Syndrome Awareness Month 2020
May is Ehlers Danlos Syndrome Awareness Month. Ehlers Danlos Syndromes are a group of connective tissue disorders. In the past, there were 7 distinct types. When I was diagnosed a few years ago, I was diagnosed by a Geneticist with EDS: Hypermobility Type. Now, it’s called Hypermobility EDS.
Here are the 13 Subtypes of EDS:
- Classical EDS – Molecular testing can provide a diagnosis. Classical features include Skin hyperextensibility and atrophic scarring; and generalized joint hypermobility.
- Classical-like EDS – Molecular testing is needed for a diagnosis. Skin hyperextensibility with velvety skin texture and absence of atrophic scarring; Generalized joint hypermobility with or without recurrent dislocations and easily bruised skin.
- Cardiac Valvular EDS – Diagnosis confirmed by molecular testing. Severe progressive cardiac-valvular problems (aortic valve, mitral valve); skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and joint hypermobility.
- Vascular EDS – Molecular testing is needed for a diagnosis. Family history of vEDS with documented causative variant in COL3A1; arterial rupture at a young age; spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology; uterine rupture during the third trimester in the absence of previous C-section and/or severe peripartum perineum tears; and carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma.
- Hypermobile EDS – No genetic testing is available. Clinical diagnosis by a Geneticist based on specific criteria. Generalized hypermobility, 2 or more of (systemic manifestations of a more generalized connective tissue disorder, positive family history, musculoskeletal complications) and Exclusions of other disorders listed. See more HERE
- ARTHROCHALASIA EDS – Molecular testing confirms diagnosis. Congenital bilateral hip dislocation; severe GJH, with multiple dislocations/subluxations; and skin hyperextensibility.
- Dermatosparaxis EDS -Final diagnosis through Molecular Testing. 9 Major and 11 Minor Criteria.
- Kyphoscoliotic EDS – Molecular testing for diagnosis. Congenital muscle hypotonia; congenital or early onset kyphoscoliosis (progressive or non-progressive); and GJH with dislocations/subluxations (shoulders, hips and knees in particular).
- Brittle Cornea Syndrome – Molecular testing needed to confirm. Thin cornea, with or without rupture (central corneal thickness often <400 µm); Early onset progressive keratoconus; early onset progressive keratoglobus; and blue sclerae
- Spondylodysplastic EDS – Molecular testing needed for diagnosis. Short stature (progressive in childhood); muscle hypotonia (ranging from severe congenital, to mild later-onset); and bowing of limbs.
- Musculocontractural EDS – Molecular testing needed to diagnosis. Congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot); characteristic craniofacial features, which are evident at birth or in early infancy; and characteristic cutaneous features including skin hyperextensibility, easy bruisability, skin fragility with atrophic scars, increased palmar wrinkling.
- Myopathic EDS – Molecular testing is needed for diagnosis. Congenital muscle hypotonia, and/or muscle atrophy, that improves with age; proximal joint contractures (knee, hip and elbow); and hypermobility of distal joints.
- Periodontal EDS – Diagnosis requires molecular testing. Severe and intractable periodontitis of early onset (childhood or adolescence); lack of attached gingiva; pretibial plaques; and family history of a first-degree relative who meets clinical criteria. (https://www.ehlers-danlos.com/eds-types/)
In the above list, I’m just sharing the Major criteria needed to meet diagnosis of EDS subtypes. There are also minor criteria not mentioned. But there is much more information on the website above.
As you can see by the list above, getting diagnosed with Ehlers Danlos Syndrome is not an easy task. I was over 50 when I was diagnosed, which was too late for many of the health problems to be recognized. Too many doctors overlooked the possibility that much of my pain and “weird” symptoms wasn’t all in my head.
EDS is considered rare, but that is probably because it is under-diagnosed. Hypermobility EDS is most common type. There is no cure for EDS and treatment is based on treating individual health problems. Vascular EDS is the only life-threatening subtype because it causes spontaneous arterial rupture.
If you’re diagnosed with any of these types of EDS, support is important to deal with all of the issues. A team of physicians will be needed to treat each specific health condition related to EDS and the co-morbidities, too. Because I have Hypermobility EDS, I see the Geneticist every 2-3 years to review any new problems. Of course, if something challenging occurs, I should see them more often.Join me as I work hard to be #ZebraStrong during Ehlers Danlos Awareness Month and every day! Click To Tweet
Whenever I have surgery, it’s important to notify the anesthesiologist and surgeon of EDS. I have constant pain from EDS and have had dislocations and subluxations in my fingers, toes, shoulders, and hips. I’ve also had three organ prolapses. Every patient with EDS will have a unique presentation and treatment.
More awareness is desperately needed, as most people have never heard of it and many, many doctors are unaware of it or for the need to have patients tested who present with symptoms. To find more about EDS, click the Ehlers Danlos Society site.
Support groups can be be found here:
- Facebook groups – search Ehlers Danlos Syndrome
- International Support groups
- Chronic Pain Partners
If you want to learn more, check all these links. If you think you might have one of these EDS subtypes consult your personal physician. Because it takes a long time to get an EDS diagnosis, don’t stop searching for the causes of your pain or chronic health needs.
Disclaimer: I’m not a medical expert. This post is my opinion only, and not intended to be medical advice. If you have a medical concern, please consult your personal physician.
@2020, copyright Lisa Ehrman