26th February 2025

Ehlers-Danlos syndrome (EDS)

This is a heterogeneous group of disorders with common features including hypermobility, soft and ‘stretchy’ skin, bruising and poor wound healing. There are fourteen types, of which thirteen have had a causative gene mutation identified. These mostly occur in genes which code for type I, III or V collagen subunits or relevant enzymes.

EDS can affect any organ or tissue structure and can present with a variety of signs or symptoms, although those mentioned above are classical. It is important to be aware of vascular EDS, which can cause arterial aneurysms or dissections due to vascular fragility.

Diagnosis is difficult, as some features of EDS are common in healthy individuals, and there is considerable overlap with other diseases. Examination of the skin in classical EDS may reveal hyper-extensibility, abnormal scarring, or velvety or ‘doughy’ texture, whereas, in vascular EDS, the skin is usually thin with visible veins. Hypermobility can be assessed using the Beighton scale. In individuals where there is high clinical suspicion, genetic testing is usually undertaken for diagnosis, except for hypermobile EDS, which has no genetic test and, therefore, requires careful clinical assessment alone.

There is no specific treatment for EDS, and management is directed at the patient’s features. In vascular EDS there should be regular screening for asymptomatic aneurysms and dissections.