Introduction

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
  • 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 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.

References

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