Ehlers Danlos Syndrome + Marfan’s Syndrome Flashcards
(18 cards)
What is hyper mobility?
A pain syndrome in people with joints that move beyond normal limits
‘Double jointed’
Typical demographic of hyper mobility spectrum disorder
Women
Asian people
Presents in childhood or young adulthood
Family history
What is used to assess hypermobility + support diagnosis?
Beighton score (max 9)
One point for each side of body if patient can:
- place palms flat on floor with their legs straight (one point)
- hyperextend their elbows
- hyperextend their kneees
- hyperextend their little finger past 90°
- bend their thumb to touch their forearm
Management of hypermobility spectrum disorder
Aim to improve pain + reduce disability
- Physiotherapy; strengthening exercises to reduce joint subluxation
- work on posture + balance
- splinting + surgery if needed
- advice on pacing + goal setting
- paracetamol
What is ehlers Danlos syndrome?
- group of genetic conditions involving defects in type III collagen
- cause hypermobility in joints
- causes abnormalities in connective tissue of skin, bones, vessels + organs
- autosomal dominant
Types of ehlers danlos syndrome
- hyper mobile EDS (most common)
- classical EDS
- vascular EDS
- kyphoscoliotic EDS
Presentation of hyper mobile ehlers danlos syndrome
- joint pain
- hyper mobility
- soft + stretching skin
- easy bruising
- poor wound healing
- joint dislocations
- POTS
What is POTS?
- postural orthostatic tachycardia syndrome
- due to autonomic dysnction
- tachycardia occurs on sitting or standing
- lightheadedness, syncope, headaches, nausea
Inheritance pattern of ehlers danlos syndrome
Autosomal dominant
Key features of classical ehlers danlos syndrome
- stretchy, smooth, velvety skin
- joint hypermobility
- joint pain
- abnormal wound healing
- mitral regurgitation
Key feature of vascular ehlers danlos syndrome
thin translucent skin
Key features of kyphoscoliotic ehlers danlos syndrome
- poor muscle tone (hypotonia) as infant
- kyphoscoliosis as they grow
- joint dislocation
What id defective in ehler danlos syndrome
Type III collagen
What is Marfan’s syndrome
- autosomal dominant connective tissue disorder
- defect in fibrillin-1
Features of Marfan’s syndrome
- tall stature
- arm span > height
- high arched palate
- arachnodactyly
- aortic regurgitation
- mitral valve prolapse
- blue sclera
Leading cause of death in Marfan’s syndrome
Aortic dissection
Management of Marfan’s syndrome
- no cure
- prevention of complications
- managing symptoms
- Physiotherapy
Complications of Marfan’s syndrome
- aortic dissection
- aortic aneurysm
- aortic regurgitation
- mitral valve prolapse
- pneumothorax
