Connective Tissue

Question 1

Presentation of Ehlers Danlos?

Answer 1

Stretchy skin, hyper mobility, loose joints, easy bruising, can lead to CVS problems such as BV rupture

Question 2

What causes Marfans?

Answer 2

Autosomal dominant- misfolding of fibrillin TF more elastic connective tissue

Question 3

Presentation of Marfans?

Answer 3

Arachnodactly, lens dislocation, death usually around 40s due to ruptured aorta

Question 4

How can Marfans be distinguished from Homocystinuria?

Answer 4

Marfans will not present with the nervous symptoms that Homocystinuria presents with

Question 5

What causes Ehlers Danlos?

Answer 5

lots- main ones: Lysyl oxidase deficiency OR mutation in type III collagen (reticulin- makes up basement membrane TF very stretchy skin)