Connective Tissue Disorders

Question 1

What is Marfan’s syndrome?

Answer 1

Autosomal dominant connective tissue disorder caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1

Question 2

Give features of Marfans

Answer 2

Tall stature with arm span to height ratio > 1.05

High-arched palate

Arachnodactyly

Pectus excavatum

Pes planus

Scoliosis of > 20 degrees

Dilation of the aortic sinuses, which may lead to aortic aneurysm, aortic dissection, aortic regurgitation, mitral valve prolapse

Repeated pneumothoraces

Upwards lens dislocation, blue sclera, myopia

Dural ectasia

Question 3

What is the leading cause of death in Marfans

Answer 3

Aortic dissection

Question 4

What is Ehler-Danlos syndrome?

Answer 4

Autosomal dominant connective tissue disorder that mostly affects type III collagen, resulting in the tissue being more elastic than normal leading to joint hypermobility and increased elasticity of the skin

Question 5

Give features of Ehler-Danlos

Answer 5

Elastic, fragile skin

Joint hypermobility/recurrent joint dislocation

Easy bruising

Aortic regurgitation, mitral valve prolapse and aortic dissection

Subarachnoid haemorrhage

Angioid retinal streaks

Question 6

What score is used to assess hypermobility?

Answer 6

Beighton