Rheum

Question 1

Ehlers danlos Notes

Pathology

Answer 1

Inherited connective tissue disease- often AD but can be AR
Develop abnormal collagen production

Results in. skin hyperextensibility, joint hypermobility and tissue fragility

Largely a clinical diagnosis though genetic tests can be done.

Question 2

Ehlers Danlos history

Answer 2

May present as easy bruising, falls or recurrent dislocations.

Ask about dislocations- details of these
Calculate Beighton score- Can you put your hands flat on the floor without bending your knees?
Can you bend elbow backwards?
Can you bend knee backwards?
Can you bend thumb backwards to touch your forearm?
Can you bend little finger up to 90 degrees?

Joint pain and stiffenss?
Muscle aches?
Easy brusing
Bleeds? 
Poor wound healing? 
Weakness walking and falls
Bowel issues and hernies
Cardia issues- due to MVP
Also aortic dissection! 
Vision issues

Question 3

Ehlers Danlos Examination

Answer 3

Look at factors of beighton score- thumb is an easy one
Skin for scars and hyperextensibility 
Bruising, kyphoscolosis
CV exam for mitral valve prolapse
ABdomen for hernia and abdominal scars. 
Assess painful joints 
Neurological exam

Question 4

Ehlers Danlos Managment

Answer 4

Mainly supportive 
PT for muscles
Orthotics and splints to limit dislocations
Analgesia
Alter activity

Question 5

Key differntials to think of in EHD cases!

Answer 5

Pseudoxanthoma elasticum.
AR mutation causes fragile calcified vessels which rupture.
Linked to a bleeding history

Have plucked chicken skin appearance. Loose skin folds in neck and axila with yellow plaques
Plus hyperextensile joints
Blue eyes
And retinal angoid streaks on fundoscopy

Have HTN and may have MVP.
Can get GI bleeds

Osteogenesis imperfecta- Due to defect in type 1 collagen
Also have blue eyes
History of multiple fractures with minimal trauma especially in childhood

Also technically marfan’s but hopefully will be able to spot this one!