Ehlers Danlos Syndrome

Question 1

Epidemiology of Ehlers Danlos Syndrome

Answer 1

1/400 000 mild or incomplete may be more frequent

Question 2

Aetiolgy

Answer 2

A defect in the structure, production, or processing of collagen or proteins that interact with collagen.

Question 3

Pathophysiology

Answer 3

due to the abnormality of many genes
many types
widespread effects

Question 4

Clinical Manifestations

Answer 4

In EDS, the skin fragility is more prominent, and joint hypermobility is usually more severe than Marfans.

Question 5

Natural History

Answer 5

Lifespan is usually normal unless there is marked vascular fragility.

A high prevalence of severe complications occurs in a minority of families

Question 6

Symptoms

Answer 6

collagen production
bleeding disorders
Bruising, bleeding from the gastrointestinal tract.

Dissecting aortic aneurysm at an early age.
Laxity of joints.
Hernias.
Hyperelasticity of skin

easy bruising
delayed wound healing with atrophic scarring (so-called ‘cigarette-paper scars’),
mainly over knees, elbows, shins, forehead and chin

Thin skin: Blood vessels can sometimes be easily seen through translucent skin, especially on the ches

Question 7

Signs

Answer 7

AAA aneurysm
Marfan
Short also

Question 8

Complications

Answer 8

Wounds may require stitching, but skin tears
GI hernias, diverticula
GI can spontaneously haemorrhage/perforate
AAA and large arteries spontaneously rupture
Atriovenous fistulars
pneumothorax
pneumheamothorax - filled with blood,

Question 9

Prognosis

Answer 9

Life span normal but lethal in some types