Familial dyslipidemias Flashcards
Kid with pancreatitis, HSM, and eruptive/pruritic xanthomas. Dx?
Hyperchylomicronemia
What is the MC presenting feature of familial hypertriglyceridemia?
Pancreatitis
30 y/o w/ bad atherosclerosis, Achilles tendon xanthomas, and corneal arcus. Dx?
Familial hypercholesterolemia
What’s the underlying defect in familial hypertriglyceridemia? Inheritance pattern?
Hepatic overproduction of VLDL. AD.
Which 2 mutations can cause familial hyperchylomicronemia? Inheritance pattern?
Lipoprotein lipase deficiency
Altered apolipoprotein C
AR
What is absent or defective in familial hypercholesterolemia? Inheritance pattern?
LDL receptors
AD
Which of the 3 main familial dyslipidemias presents with increased VLDL and TG?
Hypertriglyceridemia
Which of the 3 main familial dyslipidemias presents with increased LDL and CH?
Familial hypercholesterolemia
Which of the 3 main familial dyslipidemias presents with increased CMs, TG, and CH?
Hyperchylomicronemia