Rheumatology: Elhers-Danlos Syndrome (EDS)
Elher-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 Etiology
- 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
- Hypotonia
- High, narrow palate
- Molluscoid pseudotumours – fleshy outgrowths at the site of pressure points
- Aneurysm
- Increased risk of pneumothorax
Diagnosis
- Usually clinical
- Usually a FH
Prognosis and Treatment
- Life expectancy is usually normal
- However, some complications are potentially lethal (e.g. ruptured aortic aneurysm)
- There is no particular treatment
- Management may involve:
- Minimising the risk of trauma – this could be with the use of protective clothing / padding
- 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
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