Rheumatology

Question 1

Define EDS and what it is characterised by

Answer 1

Ehlers=Danlos syndromes are heterogeneous heritable disorders of connective tissue characterised by:

• articular hypermobility
• skin hyper extensibility
• tissue fragility affecting skin, ligaments, joints, blood vessels, and internal organs

Question 2

Fix signs of EDS

Answer 2

FHx sudden death, rectal prolapse, varicose veins, scarring, dislocation

Question 3

Signs on examination of person with EDS

Answer 3

Abnormal flexibility/skin fragility, kyphoscoliosis, skin that bruises easily, digestive problems, joint pain and clicking joints

Question 4

Which score is used to test generalised hyper mobility?

Answer 4

Breighton score

Question 5

Cx of ehlers dans syndromes

Answer 5

Aortic dissection, joint dislocations, scoliosis, chronic pain, OA

Question 6

How many variant genes are thought to cause EDS?

Answer 6

19

Question 7

Tx for EDS?

Answer 7

No known cure, treatment typically supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints.

Question 8

Skin problems with EDS?

Answer 8

Atrophic scar formations, translucent skin vascular EDS, skin hyper elasticity