LIPID METABOLISM

Question 1

Which genetic disorder is associated with reduced LDL and triglyceride levels and a reduced risk of ASCVD?
A) Autosomal dominant hypercholesterolemia
B) Familial PCSK9 deficiency
C) Tangier disease
D) Familial chylomicronemia syndrome

Answer 1

Correct Answer: B
Rationale: Familial PCSK9 deficiency results in reduced LDL and triglyceride levels, leading to a decreased risk of atherosclerotic cardiovascular disease (ASCVD).

Question 2

Patients with hepatic lipase deficiency typically show elevated:
A) Chylomicrons and remnants
B) LDL and HDL
C) Chylomicron remnants, IDL, and HDL
D) Triglycerides, LDL, and HDL

Answer 2

Correct Answer: C
Rationale: Hepatic lipase deficiency results in elevated chylomicron remnants, intermediate-density lipoproteins (IDL), and HDL, contributing to premature ASCVD.

Question 3

Which condition is associated with markedly reduced triglycerides (TG), LDL, and HDL levels?
A) Familial combined hypolipidemia
B) Familial hypercholesterolemia
C) Abetalipoproteinemia
D) Hepatic lipase deficiency

Answer 3

Correct Answer: C
Rationale: Abetalipoproteinemia, caused by LoF mutations in MTTP, is characterized by absent LDL and reduced triglycerides and HDL. Clinical features include spinocerebellar degeneration and fat malabsorption.