What is Hypermobile Ehlers-Danlos Syndrome (hEDS)?
Hypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder (Autosomal Dominant – a child of one parent with EDS has a 50% chance of inheriting) that is caused by defects in a protein called collagen. Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscle and bone) pain. While Hypermobile EDS is regarded as a genetic condition, the genetic cause is unknown as the gene(s) responsible have not been identified.
Signs & Symptoms
We know that day to day, many people with Hypermobile EDS have no problems and live full and enjoyable lives. However there is a wide spectrum with Hypermobile EDS ranging from asymptomatic joint hypermobility, through “non-syndromic” hypermobility with secondary manifestations.
What are the main signs and symptoms of Hypermobile EDS?
The signs and symptoms of Hypermobile EDS vary but may include:
- Smooth, velvety skin that is highly elastic (stretchy) and bruises easily
- Mild skin hyperextensibility
- Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight
- Bilateral piezogenic papules of the heel
- Dental crowding and high or narrow palate
- Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS
- Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition
Other symptoms may include
- Arthralgia (joint pain)
- Gastrointestinal distress
Joint hypermobility is present. This will be evidenced by the presence of a Beighton score of 5 or greater, either on examination or historically. Joint instability and/or recurrent joint dislocations, in the absence of trauma, may be present with Hypermobile Ehlers-Danlos Syndrome.
Gastrointestinal complaints are more commonly described in the hypermobile type of EDS:
- Gastrointestinal dysmotility
- Gastroesophageal reflux
- Aplasia/Hypoplasia of the abdominal wall musculature
- Anorectal anomaly
- Nausea and vomiting
Source: [1 Hypermobile Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)]
[ 2 Ehlers-Danlos Society] [3 2017 International Classification of the Ehlers-Danlos Syndromes]
Hypermobile EDS Diagnosis
The diagnosis of hEDS remains clinical. As yet there is no reliable or appreciable genetic etiology to test for in the vast majority of patients. This means that there is a very strict diagnostic criteria for diagnosing Hypermobile Ehlers-Danlos Syndrome.
The Beighton Criteria is a 9 point system used to test joint hypermobility. The joints assessed are:
- Knuckle of both little/fifth/pinky fingers
- Base of both thumbs
Each joint tested is worth one point, for a total score of 9 points. A score of 4 or more points shows that hypermobility is present. Once the Beighton Score has been established, it is a matter of narrowing down the patient’s specific subtype. This is done through the 2017 Diagnostic criteria list. In order to be correctly diagnosed with Hypermobile EDS, you must fit multiple criteria from criteria 1, 2, and 3.
Source: [1 Hypermobile Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)] [2 Ehlers-Danlos Society] [3 2017 International Classification of the Ehlers-Danlos Syndromes]
To meet the diagnostic criteria for hEDS, a person must meet:
- Major criterion 1 AND 2 minimum from Major criterion 2 AND Major criterion 3
Major Criteria 1
- Generalised Joint Hypermobility (Beighton score of minimum 4 out of 9 for over age 50, Beighton score of minimum 5 out of 9 in young adults, Beighton score of minimum 6 out of 9 in children and adolescents)
Minor Criteria 2 Include
- Soft, velvety skin
- Mild skin hyperextensibility (not as much as cEDS)
- Unexplained striae
- Piezogenic papules (nodules on side of feet)
- Recurrent/multiple hernias
- Atrophic scarring
- Arm span-Height ratio: ≥ 1.05
- Pelvic floor prolapse
- Dental crowding
- Mitral valve prolapse
- Aortic root dilatation
- Soft, velvety skin
Major Criteria 3 Include
- No skin fragility
- Reasonable exclusion of other connective tissue disorders e.g. Marfan syndrome
- Exclusion of other disorders that could cause GJH
Support for Hypermobile Ehlers-Danlos Syndrome
EDSNZ are working at compiling a list of resources of services and support you may be interested in. Among these are: