What is Classical-Like Ehlers-Danlos syndrome (clEDS)?
Classical-like Ehlers-Danlos syndrome is a form of Ehlers Danlos Syndrome (EDS) characterised by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising. Other symptoms might include muscle weakness and wasting (atrophy), and protrusion of part of the stomach through the diaphragm in the chest cavity (hiatal hernia).
Classical-like EDS is caused by genetic changes in both copies of the TNXB gene and is inherited in an autosomal recessive manner. However, some individuals with a genetic change in only one copy of the TNXB gene can have symptoms similar to EDS hypermobility type including joint hypermobility and soft skin. Some individuals with classical-like EDS can have larger deletions of genetic material including other genes. These individuals may have additional symptoms.
What is the prevalence of clEDS?
clEDS is an ultra-rare disorder that affects less than 1 in 1 million people.
What causes clEDS?
clEDS is caused by differences in the genes called genetic variants. These genetic variants affect the connective tissue, which provides support, protection, and structure throughout the body.
clEDS is caused by genetic variants of the TNXB gene.
How is clEDS inherited?
clEDS is inherited in an autosomal recessive pattern. This means if a person inherits the genetic variant from both of their parents, they will have clEDS. People with one copy of the genetic variant are carriers of clEDS. Carriers do not have clEDS themselves, but some carriers of clEDS do have joint hypermobility, joint instability, and chronic pain. Carriers of clEDS may pass the genetic variant on to their children.
Signs & Symptoms of Classical-Like EDS
clEDS may be suspected if a person has:
- Soft, stretchy skin without atrophic scarring
- Generalised joint hypermobility
- Joint instability
- Easy bruising
People with clEDS may also have:
- Foot abnormalities
- Muscle weakness
- Vascular fragility
- Edema in the legs in the absence of heart failure
- Vaginal, uterus, or rectal prolapse
What is skin hyperextensibility?
Skin hyperextensibility means that the skin can be stretched beyond the normal range. When released, hyperextensible skin returns to shape straight away. Skin extensibility is measured by pinching and lifting the skin on the volar (same side as the palm of the hand) surface at the middle of the non-dominant forearm. Skin is hyperextensible if it stretches greater than 1.5 cm. Skin hyperextensibility > 2 cm is usually present in people with clEDS.
Diagnosis of Classical-Like Ehlers-Danlos Syndrome
If a person meets the diagnostic criteria for clEDS, genetic testing should be done to confirm the diagnosis. Genetic testing is used to see if a person has the genetic variants that cause clEDS.
To meet the diagnostic criteria for clEDS, a person must meet all three major criteria AND have a family history compatible with autosomal recessive inheritance.
- Skin hyperextensibility, with velvety skin texture and absence of atrophic scarring
- Generalised joint hypermobility, with or without recurrent dislocations (most commonly shoulder and ankle)
- Easy bruisable skin/spontaneous ecchymoses
- Foot deformities (broad/plump forefoot; brachydactyly with excessive skin; pes planus; hallux valgus; piezogenic papules)
- Edema in the legs in absence of cardiac failure
- Mild proximal and distal muscle weakness
- Axonal polyneuropathy
- Atrophy of muscles in hands and feet
- Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly
- Vaginal/uterus/rectal prolapse
How is clEDS managed?
clEDS is managed by addressing the symptoms a person is experiencing. clEDS can cause a variety of symptoms in many different areas of the body, so people with clEDS may require multiple providers in different specialties to manage their care. Key aspects of care focus on the skin and joints. Each person should work with their care team to develop a care plan that meets their individual needs.
Source [1 Genetic and Rare Diseases Information Center l Classic-Like Ehlers Danlos Syndrome ] [2 Ehlers Danlos Society l What is EDS? ]
Support for Classical-Like Ehlers-Danlos Syndrome
Please feel free to join our Nationwide Support Group “Loosely Speaking” on Facebook, or check out our more localised support groups to see if there is one within your area.
EDSNZ are working at compiling a list of resources of services and support you may be interested in. Among these are: