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 Best of Five 2.135

 

   

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BOF: 2.135

A 20-year-old female presents to the clinic. She is concerned about some disfiguring lumps that have begun to appear on her neck. There is a family history of ischaemic heart disease at an early age.

On examination you note small yellow papules a few of which appear to have coalesced to from plaques.

What is the likely diagnosis?

a)      Pseudoxanthoma elasticum

b)      Ehlers Danlos syndrome

c)      Tangier disease

d)      Remnant hyperlipidaemia

e)      Heterozygous familial hypercholesterolaemia

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