Ehlers-danlos syndrome

Question 1

Definition

Answer 1

Group of inherited disorders that affect your connective tissue-primarily your skin, joints and blood vessel walls

Can be divided into at least 10 variants

Question 2

Aetiology

Answer 2

Gene mutations, can be caused by a number of gene mutations

The most common form hyper mobile Ehlers-danlos syndrome, there’s a 50% chance that you will pass on the gene to each of your children

Question 3

Pathophysiology

Answer 3

Caused by a number of gene mutations that depend on the type of EDS that you have

Overall, 30 types of collagen can be affected

There is defective fibrous proteins/enzymes, meaning that there will be increased elasticity of tissues and structure, this leading to decreased strength of the tissues. Making them more hyper mobile and weaker

Question 4

Clinical presentation

Answer 4

People usually have over flexible joints and stretchy, fragile skin (this can become a problem if you have a wound and need stitches, because the skin often isn’t strong enough to hold them).

Over flexible joints- because the connective tissue that holds the joints together is looser, this allows a joint to move further past its normal ROM.

Stretchy skin

Fragile skin- damaged skin does not often heal well

Vascular EDS:
– thin nose
– thin upper lip
– small ear lopes
– prominent eyes

Vascular EDS can weaken the aorta, as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal

Question 5

Investigations

Answer 5

Beighton score
– there is nine criteria, four are needed to be established as hypermobile

Skin biopsy

EDS specific genetic panel

Question 6

Treatment

Answer 6

No cure for EDS, but there are treatments that are available to help with the symptoms

Medications:
– over the counter pain relievers (NSAIDS)
– blood pressure tablets (beta blockers)