Ehlers-Danlos syndrome is an inherited connective tissue disorder caused by defective collagen synthesis. Symptoms vary widely between individuals. Some may be hardly effected, whilst other live severely restricted lives.
Epidemiology and Aetiology
- Several types of the disease (5 main types, + some rarer ones), inheritance depends on the type. Most are autosomal dominant, but some are recessive
- Thought to affect about 1 in 5000 births
Pathology and clinical findings
- Defective collagen synthesis, resulting in insufficient and/or ineffective collagen. Affected organs vary depending on the type of the disease, although there is often some degree of all the features below, regardless of what type:
- Classical (common) – hyperelasticity of the skin
- Hypermobility type (common) – hypermobility of joints. Joints are prone to sprain, dislocation, effusion and subluxation
- Vascular type (rare) – easy bruising, aneurysms
- Ocular-kyphoscoliotic type (rare)– weak sclera, predisposing to perforation of the globe, and kyphoscoliosis of the spine.
- Arthrokalasis (rare)– characterised by bilateral congenital dislocation of the hip
- Other types – extremely rare (e.g. <50 reported cases worldwide)
- Other signs and symptoms
- Flat feet
- Poor healing / thin skin particularly scar tissue – can be difficult to suture in surgery as the skin just rips
- GI bleeds / perforation
- High, narrow palate
- Molluscoid pseudotumours – fleshy outgrowths at the site of pressure points
- Increased risk of pneumothorax
- Usually clinical
- Usually a FH
Prognosis and Treatment
- Life expectancy is normal for the majority of patients
- However, some complications are potentially lethal (e.g. ruptured aortic aneurysm), and thus in severe cases, usually those with cardiovascular involvement, life expectancy may be reduced.
- There is no curative or prognosis-altering treatment
- Management may involve:
- Minimising the risk of trauma – this could be with the use of protective clothing / padding, and avoiding activities that cause hyperextension and subluxation of the joints
- Extra precautions to ensure haemostasis during surgery – also watch out for suturing wounds – don’t leave the skin under excessive tension
- Extra precautions during pregnancy and delivery
- Genetic counselling – particularly if planning pregnancy
- Monitoring of affected systems – e.g. cardiovascular, GI and orthopaedic follow-up and monitoring appointments.