What is the most likely diagnosis?

A 42-year-old motor mechanic was referred to the dermatologist with small cauliflower-like

deposits on the points of his elbows. He was generally well, but on systemic enquiry, he described intermittent claudication. He had previously been hypertensive, and was taking thyroxine for primary hypothyroidism.

On examination, he was moderately obese. He had xanthelasmata on the upper eyelids of both eyes and tuberoeruptive xanthomata on both elbows, both knees and the nape of the neck.

Investigations:

serum alanine aminotransferase78 U/L (5C35)

fasting plasma glucose7.8 mmol/L (3.0C6.0)

serum urate0.48 mmol/L (0.23C0.46)

serum cholesterol13.4 mmol/L (<5.2)

serum LDL cholesterolnot measurable

serum HDL cholesterol0.90 mmol/L (>1.55)

fasting serum triglycerides9.32 mmol/L (0.45C1.69)

apolipoprotein E genotypehomozygous for apolipoprotein E2

What is the most likely diagnosis?
A . abetalipoproteinaemia
B . familial combined hyperlipidaemia
C . heterozygous familial hypercholesterolaemia
D . lipoprotein lipase deficiency
E . type III hyperlipidaemia (dysbetalipoproteinaemia)

View Answer

Answer: E