ehlers danlos syndrome

Question 1

what

Answer 1

group of genetic conditions causing defects in collagen

• hypermobility
• abnormal connective tissues

Question 2

hypermobile Ehlers-Danlos syndrome

Answer 2

most common + least severe

joint hypermobility
soft + stretchy skin

Question 3

classical Ehlers-Danlos syndrome

Answer 3

stretchy skin and smooth 
severe joint hypermobility 
abnormal wound heeling 
lumps over pressure points
prone to hernias, prolapses, mitral regurg

Question 4

classical Ehlers-Danlos syndrome - inheritance

Answer 4

autosomal dominant

Question 5

Vascular Ehlers-Danlos syndrome

Answer 5

blood vessels fragile
thin translucent skin
skin, internal organs, arteries fragile and prone to rupture

Question 6

Vascular Ehlers-Danlos syndrome - inheritance

Answer 6

autosomal dominant

Question 7

Kyphoscoliotic Ehlers-Danlos syndrome

Answer 7

poor tone (hypotonia) as a neonate followed by kyphoscoliosis

patients tend to be tall and slim

Question 8

Breighton score

Answer 8

assess extent for hypermobility

1 score for each side body - max is 9

• palms flat floor w straight legs (1 point)
• elbows hyperextended
• knees hyperextended
• thumbs bend to touch forearms
• little finger hyperextends past 90º

Question 9

Postural Orthostatic Tachycardia Syndrome

Answer 9

occurs with hypermobile ED syndrome due to autonomic dysfunction

inappropriate tachycardia on sitting or standing
presyncope, syncope, headaches, nausea, tremor