Familial dyslipidemias

Question 1

Kid with pancreatitis, HSM, and eruptive/pruritic xanthomas. Dx?

Answer 1

Hyperchylomicronemia

Question 2

What is the MC presenting feature of familial hypertriglyceridemia?

Answer 2

Pancreatitis

Question 3

30 y/o w/ bad atherosclerosis, Achilles tendon xanthomas, and corneal arcus. Dx?

Answer 3

Familial hypercholesterolemia

Question 4

What’s the underlying defect in familial hypertriglyceridemia? Inheritance pattern?

Answer 4

Hepatic overproduction of VLDL. AD.

Question 5

Which 2 mutations can cause familial hyperchylomicronemia? Inheritance pattern?

Answer 5

Lipoprotein lipase deficiency
Altered apolipoprotein C
AR

Question 6

What is absent or defective in familial hypercholesterolemia? Inheritance pattern?

Answer 6

LDL receptors

AD

Question 7

Which of the 3 main familial dyslipidemias presents with increased VLDL and TG?

Answer 7

Hypertriglyceridemia

Question 8

Which of the 3 main familial dyslipidemias presents with increased LDL and CH?

Answer 8

Familial hypercholesterolemia

Question 9

Which of the 3 main familial dyslipidemias presents with increased CMs, TG, and CH?

Answer 9

Hyperchylomicronemia