Discuss Hepatic lipase deficiency Help
A 35‐year‐old male presents to his doctor’s office for
an annual checkup. Lab tests show a severely elevated
level of plasma LDL cholesterol. He is diagnosed with
familial hypercholesterolemia. Mutation in which of
the following genes is most likely responsible for the
elevated LDL cholesterol?
A. ABCG5
B. ApoB‐100
C. ApoC‐II
D. LDL receptor
E. Scavenger receptor B1
3.6.2 A 16‐year‐old female presents with tendon xanthomas
on the extensor surface of her hands and on her
Achilles tendons. Blood test reveals remarkably elevated levels in sitosterol (18.5mg/dl) and LDL cholesterol (485mg/dl). Genetic sequencing for ABCG5
reveals compound heterozygous null mutations.
Which of the following is the patient most likely
having?
A. ApoA‐V deficiency
B. Chylomicronemia
C. Hepatic lipase deficiency
D. Phytosterolemia
E. Tangier disease
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