Dyslipoproteinemias

Question 1

Cause of abetalipoproteinemia

Answer 1

Is due to mutations in the gene encoding MTP, which transfers lipids to nascent chylomicrons and VLDL

Question 2

Characteristics of LCAT deficiency

Answer 2

• Corneal opacification due to deposition of free cholesterol in cornea (fish eye dx)
• Lack of normal cholesterol esterification impairs formation of mature HDL
• No CVD present

Question 3

Tangier dx

Answer 3

ABCA-1 defect -> proper HDLs cannot form