Ehlers-Danlos Syndrome

Question 1

What is EDS

Answer 1

Group of genetic conditions which cause defects in the collagen resulting in hypermobility and abnormalities in connective tissue

Question 2

Features of hypermobile EDS

Answer 2

Most common and least severe. Joint hypermobility, soft and stretchy skin, no gene identified

Question 3

Features of classical EDS

Answer 3

Remarkably stretchy skin, feels smooth and velvetly to touch, severe joint hypermobility, joint pain and abnormal wound healing. Lumps over pressure points such as elbows, prone to hernias, prolapses, mitral regurg and aortic root dilatation. Autosomal dominant

Question 4

Featues of vascular EDS

Answer 4

Most dangerous where blood vessels are particularly fragile as a result of defective collagen. Paients have characteristic thin, transluscent skin. Skin, internal organs and arteries are fragile and prone to rupturing

Question 5

Features of kyphoscoliosis EDS

Answer 5

Initially hypotonia as neonate and infant, followed by kyphoscoliosis as they grow, significant joint hypermobility, patients tend to be tall and slim, risk of rupture in medium sized arteries

Question 6

Presentation of EDS

Answer 6

Hypermobile joints, joint pain after exercise of inactivity, joint dislocations, easy bruising, poor healing of wounds, bleeding, headaches, autonomic dysfunction causing dizziness or syncope, GORD, abdo pain, IBS, menorrhagia and dysmenorrhoea, PROM, urinary incontinence, pelvic organ prolapse, termporomandibular joint dysfunction and myopia

Question 7

Beighton score for hypermobility

Answer 7

Assess extent of hypermobility and support diagnosis of hypermobility syndrome. Onne point for each side of the body with max score of 9

Question 8

Management of EDS

Answer 8

No cure, physiotherapy, minimise complications and monitoring complications

Question 9

Diagnosis of EDS

Answer 9

Exclude marfan syndrome, diagnose using Beighton score