Hypercholesterolemia Syndromes

Question 1

Familial hypertriglyceridemia is a defect in what? Increased what?

Type?

Inheritance?

Answer 1

Poylgenic, inc VLDL

4

AD

Question 2

Familial dysbetalipoproteinemia is a defect in what?

Type?

Inheritance?

Answer 2

ApoE

3

AR

Question 3

Defect in ApoE means elevated what?

Major manifestation?

Answer 3

chylomicrons and VLDL remnants

Premature atherosclerosis

Question 4

Type 4 dyslipidemia means elevated what?

Major manifestation?

Answer 4

VLDL

Coronary disease, pancreatitis, diabetes

Question 5

Defect in ApoC-2 means elevated what?

Major manifestation?

Answer 5

Chylomicrons

Acute pancreatitis

Question 5

Familial hypercholesterolemia is a protein defect in what?

Type?
Inheritance?

Answer 5

LDL receptor, ApoB-100

2, AD

Question 7

Defect in LPL means elevated what?

Major manifestation?

Answer 7

Chylomicrons

Acute pancreatitis

Question 8

Defect in ApoB-100 means elevated what?

Major manifestation?

Answer 8

LDL

Premature atherosclerosis

Question 9

Defect in LDL receptor means elevated what?

Major manifestation?

Answer 9

LDL

Premature atherosclerosis

Question 13

Familial chylomicronemia syndrome (type I) is a defect in what?
Type what?

Answer 13

LPL
ApoC-2

1