ehlers danlos syndrome Flashcards
define ehlers danlos syndrome
A group of genetic conditions that involve defective collagen, causing problems with connective tissues.
4 types of ehlers danlos syndrome
- hypermobile
- classical
- vascular
- Kyphoscoliotic
what is hypermobile ehlers danlos
most common and least severe, causing joint hypermobility and soft/stretchy skin.
what is classical ehelrs danlos
joint hypermobility and soft/stretchy skin.
+ poor wound healing and lumps on joints.
what is vascualr ehlers danlos
thin, translucent skin, at high risk of blood vessel rupture.
what is kyphoscoliotic ehlers danlos
poor muscle tone, kyphoscoliosis, joint hypermobility.
what is the inheritance pattern for ehlers danlos
Only Kyphoscoliotic is autosomal recessive, the others are autosomal dominant.
most common symptoms of ehlers danlos
- Joint dislocation
- Joint pain
- Hypermobility
- cardiovascular complications
- easily stretched skin
- easy bruising
2 investigations for ehlers danlos
- Genetic Testing
- Beighton Score
what is the beighton score
This is used to assess hypermobility and support the diagnosis.
1 point is scored for each side of the body:
Place their palms flat on the floor with their straight legs (scores only 1)
Hyperextend their elbows
Hyperextend their knees
Bend their thumb to touch their forearm
Hyperextend their little finger past 90°
4 treatment options for ehlers danlos
- Physiotherapy to strengthen and stabilise joints
- Occupational therapy to maximise function
- Moderating activity to limit flares
- Psychology may be required to support wellbeing
which complications should you monitor for ehlers danlos
since it is a connective tissue disorder u have weak valves and vessels so need to monitor
- regurgitation murmurs
- aortic aneurysm ruptures
- aortic dissection
