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Y1 Rheumatology > Ehlers-Danlos Syndrome - week 17 > Flashcards

Ehlers-Danlos Syndrome - week 17 Flashcards

1
Q

What is Ehlers-Danlos syndrome?

A

Genetic collagen disorder

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2
Q

Epidemiology of Ehlers-Danlos syndrome?

A

Children/teens
rare and common depending on type (13 types)

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3
Q

Presentation of Ehlers-Danlos syndrome?

A

Classic triad:

Hypermobility and flexibility
Elastic skin
Tissue fragility

varicose veins
organ rupture

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4
Q

Pathophys of Ehlers-Danlos syndrome?

A

Collagen type 3 mutation (vascular ED)
Collagen type 5 mutation (classical ED)

19 genes involved

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5
Q

Investigation of Ehlers-Danlos syndrome?

A

Exam
History
Genetics
Beighton hypermobility criteria

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6
Q

Management of Ehlers-Danlos syndrome?

A

Physio
OT
Genetics counselling

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7
Q

Prognosis for Ehlers-Danlos syndrome?

A

Slow progression
Shorter life span with vascular ED

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Y1 Rheumatology (37 decks)

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