Familial dyslipidemias

Question 1

Hyperchylomicronemia

Answer 1

AR

Deficiency of LPL or C-II (LPL cofactor)

High Chylomicrons, TG and cholesterol

Pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas. NO increased risk of atherosclerosis

Creamy layer in supernatant

Question 2

Familial hypercholesterolemia

Answer 2

AD

Absent or defective LDL-R

High in typeA: LDL and cholesterol
High in type B: LDL, cholesterol, VLDL

Heterozygotes cholesterol = 300
Homozygotes cholesterol = 700+
Atherosclerosis accelerated (MI before 20)
Tendon xanthomas, corneal archus

Question 3

Dysbetalipoproteinemia

Answer 3

AR

Defective ApoE

High Chylomicrons, VLDL

Premature atherosclerosis, tuberoeruptive xanthomas, xanthoma striatum palmare

Question 4

Hypertriglyceridemia

Answer 4

AD

Hepatic overproduction of VLDL

High VLDL and TG

Hypertriglyceridemia over 1000 can cause acute pancreatitis