PATH - Familial dyslipidemias

Question 1

Hyperchylomicronemia (Type I)

Answer 1

AR

*Lipoprotein lipase or
*apolipoprotein C-II
deficiency

INC Blood Levels:
Chylomicrons, TG,
cholesterol

Pancreatitis,
hepatosplenomegaly, and
eruptive/pruritic xanthomas
(no INC risk for atherosclerosis).
Creamy layer in supernatant

Question 2

Familial hypercholesterolemia (Type IIa)

Answer 2

AD

Absent or defective *LDL receptors

INC Blood Levels:
LDL, cholesterol

Accelerated atherosclerosis (may
have MI before age 20), *tendon (Achilles) xanthomas, and corneal arcus

Question 3

Hypertriglyceridemia (Type IV)

Answer 3

AD

Hepatic overproduction of
*VLDL

INC Blood Levels:
VLDL, TG

can cause acute pancreatitis