What is Ehlers-Danlos Syndrome?

The Ehlers-Danlos syndromes (EDS) are a group of varied, heritable connective tissue disorders affecting the quality of collagen and other connective tissues in the body. Characterised by joint hypermobility and skin findings, there are usually additional features (called Red Flags) in other parts of the body. 

There are 13 types of EDS, most of which are very rare. However, EDS hypermobile type (hEDS) is thought to be common. hEDS is a multisystem disorder which can have a marked impact on an individual’s health. Unlike other, rarer forms of EDS (including classic EDS and vascular EDS) the genetic basis of hEDS is not well understood and no genetic testing is available for this condition. A Clinical Genetics referral is usually not indicated for a patient with hEDS or joint hypermobility syndrome.

Testing for EDS

• There is currently no available gene testing for hEDS
• Genetic testing may be possible for rarer forms of EDS, such as classic EDS or vascular EDS, and Marfan related conditions

Management of hEDS & joint hypermobility

Management of the symptoms of hypermobile EDS can be complex and is usually coordinated by a paediatrician or general practitioner. Specialists care may be provided by a rheumatologist, rehabilitation physician, pain physicians and/or allied health professionals (for example physiotherapists, occupational therapists)

Referrals

Patients with a personal or family history of joint hypermobility should be referred Clinical Genetics if they have additional findings suggestive of a rare form of EDS, including any of the following:

• Excessive skin fragility – such as extensive widened atrophic scars, fragile skin (easily tears, wounds pull apart) or excessively sagging or prematurely aged skin
• Skeletal features – such as significant kyphoscoliosi or hand or foot deformities
• Cardiac or vascular involvement – such as arterial dissection, aortic aneurysm or young onset extensive varicosities
• History of internal organ rupture
• Large hernias
• Pneumothoraces

Our referral process

The Clinical Genetics Service at RPA Hospital can provide tertiary diagnostic advice for children and adults with rare heritable connective tissue disorders such as EDS and Marfan Syndrome. 

All patient referrals must include reports from an echocardiogram and eye examination. These reports may show features of heritable connective tissue disorder and need to be included in the referral.

Helpful resources