SearchArthrochalasia EDS (aEDS)
Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.
What is aEDS?
aEDS is an incredibly rare type of EDS and symptoms include severe joint hypermobility, hyperextensible skin, mild dysmorphic features, and bilateral congenital hip dislocation.
What is the cause of aEDS?
aEDS is caused by variations in a person’s genes. aEDS is caused by variations in genes COL1A1 or COL1A2.
How is aEDS diagnosed?
When diagnosing aEDS a list of common and relevant signs and symptoms of the condition are used. This is referred to as diagnostic criteria and in the case of aEDS it is split into a set of major and minor criteria.
The Major criteria
- Congenital bilateral hip dislocation
- Severe generalised joint hypermobility, with multiple dislocations/subluxations
- Skin hyperextensibility
The Minor criteria
- Muscle hypotonia
- Kyphoscoliosis
- Radiologically mild osteopenia
- Tissue fragility, including atrophic scars
- Easy bruisable skin
To meet the diagnostic criteria for aEDS a person must have:
Major criteria 1 (congenital bilateral hip dislocation)
plus
Major criterion 3 (skin hyperextensibility) Or major criterion 2 (severe GJH with multiple dislocations/subluxations) and at least two other minor criteria
If a person meets the criteria a genetic test is done to confirm the diagnosis. You can read more about genetic testing for the rare types of EDS here.
How is aEDS managed?
aEDS is managed through addressing the symptoms a person is experiencing. This is best done through being in the care of the NHS National EDS service; a specialised service for adults and children who have or are suspected to have a rare type of EDS.
For information about the service and for referral eligibility please click on the following links:
EDS National Diagnostic Service (based in London) covering the South of England
EDS National Diagnostic Service (based in Sheffield) covering the North of England