Ehler-Danlos syndrome Flashcards
1
Q
Inheritance?
A
Autosomal dominant
2
Q
What is the pathophysiology?
A
A connective tissue disorder that mostly affects type 3 collagen. This results in the tissue being more elastic than normal leading to joint hypermobility and increased elasticity of the skin.
3
Q
Symptoms and complications?
A
- elastic, fragile skin
- joint hypermobility: recurrent joint dislocation
- easy bruising
- aortic regurgitation, mitral valve prolapse and aortic dissection
- subarachnoid haemorrhage
- angioid retinal streaks
