Ehlers-Danlos Syndrome

Question 1

Ehlers-Danlos Syndrome (EDS) is a group of genetic conditions involving defects in _____

Answer 1

collagen

Question 2

The defective collagen in EDS results in h_______ and abnormalities in connective tissue of skin, bones, blood vessels and organs

Answer 2

hypermobility

Question 3

What are symptoms of EDS?

Answer 3

Joint pain
Hypermobility
Stretchy skin
CV complications (mitral regurg, AAA, aortic dissection)
Easy bruising
Poor wound healing

Question 4

True or false: EDS leads to weak valves and weak vessels

Answer 4

True

Question 5

What complications of EDS should be monitored?

Answer 5

Regurgitation murmurs
Aortic aneurysm ruptures / aortic dissection

Question 6

How do you diagnose Ehlers Danlos syndrome?

Answer 6

Clinical presentation with collagen mutations

Question 7

What condition can occur with hypermobile Ehlers-Danlos syndrome as a result of autonomic dysfunction?

Answer 7

POTS
Postural Orthostatic Tachycardia Syndrome

Question 8

What happens in POTS?

Answer 8

Significant tachycardia on sitting or standing with presyncope, syncope, headaches, disorientation, nausea and tremor.

Question 9

What score is used to assess hypermobility?

Answer 9

Beighton score

Question 10

How does the Beighton scoring system work?

Answer 10

1 point for each side of the body
Max score 9
Criteria like hyperextend elbows
hyperextend knees

Question 11

How do you manage EDS?

Answer 11

No cure

Maintain healthy joints
Physio
Occupational Therapy
Moderating activity to minimise flares

Question 12

Hypermobility in joints leads to additional wear and tear on the joint, resulting in premature ______

Answer 12

osteoarthritis