Inherited connective tissue issues

Question 1

What is ehders danlos syndrome?

Answer 1

Inerited connective tissue disorder- with hypermobile EDS being the most common subtype
affects collagen and matrix proteins, most often fibrillin/collagen
exact genetics not known

RF- family hx of hypermobility/EDS

Question 2

What are the symptoms of EDS

Answer 2

All EDS have hypermobile joints- can use beighton 9-point score + other joints (common wrist, elbow, knee, spine)
Motor delay in infancy
Reccurent dislocations
soft/silky skin, semi transparent
easy bruising and poor healing
Delayed onset of local anesthesia
Hypotonia
Hernia/prolapse
GI- GORD/gastritiis
mitrial vavle prolapse

Chronic pain and fatigue

Question 3

Ix and ddx of EDS

Answer 3

Ix- clinical and genetic testing are only way

ddx= Marfans (more classical heart sx)

Question 4

Management of EDS

Answer 4

Mainly education and councelling

Pain management -nSAID, muscle relax
Physio/OT
CBT/depression
splints
and often reduce and immobilise joints
specialist for ANS dysfunctions - eg constipation

Question 5

What is marfans syndrome

Answer 5

Uncommon autosomal dominant condition, with loss of elastic tissue –FIBRILLIN 1 gene affected

RF -hx of marfans, hx of aotric dissection/aneurysm

Question 6

Sx of marfans syndrome

Answer 6

criteria- family hx, lens sublux, msk findings, aortic dissection
3/4 of those criteria

Tall, with very long arms
Long finers
Larger than usual pubic bones
High arched palate
positive wrist signs ( can wrap thumb and little finger around wrist +overlap)
sternum can be sunk inwards (excavatum) or outwards (pigeons)
Scoliosis
Flat feet
Retinal eye issues- dislocated eye lens (always consider marfans if that is found), myopia)
Joint hypermotility

aortic murmur
10% mitrial murmur (early calcified valve)
hx of dental works (common due to high arch palate)
Spontaneous pneumothorax,
hernia
back aches
aortic dissections (under 50)