Rheumatology - Ehlers-Danlos Syndrome

Question 1

What is the most common type of Ehlers-Danlos syndrome?

Answer 1

Hypermobile Ehlers-Danlos syndrome
- Joint hypermobility
- Soft and stretchy skin
- Autosomal dominant

Question 2

What are the other types of Ehlers-Danlos syndrome?

Answer 2

Classical Ehlers-Danlos syndrome
- Skin not as stretchy
- Severe hypermobile joints
- Abnormal wound healing
- Prone to hernias, prolapses, mitral regurgitation and aortic root dilation

Vascular Ehlers-Danlos syndrome
- Most severe
- Blood vessels fragile and prone to rupture
- Thin, translucent skin
- Spontaneous GI perforation and PTX

Kyphoscoliotic Ehlers-Danlos syndrome
- Poor muscle tone as a neonate and infant
- Kyphoscoliosis as they grow
- Joint dislocation

Question 3

What is the only type of Ehlers-Danlos syndrome that is autosomal recessive?

Answer 3

Kyphoscoliotic Ehlers-Danlos syndrome

Question 4

What causes POTS in Ehlers-Danlos syndrome?

Answer 4

Autonomic dysfunction

Causes significant tachycardia on sitting or standing
Presyncope
Syncope
Headaches
Tremor

Question 5

What is the used to assess hypermobility?

Answer 5

Beighton score

Question 6

How is Ehlers-Danlos syndrome managed?

Answer 6

Genetic testing for family

Maintaining healthy joints
Symptom management
Supporting daily activities
Complication management

Physiotherapy
Occupational therapy
Moderating activity
Psychology for wellbeing

Question 7

Why can patients with Ehlers-Danlos syndrome get premature osteoarthritis?

Answer 7

Hypermobility leads to additional wear and tear