Primary Disorders of Plasma Lipoproteins (Dyslipoproteinemias)

Question 1

DEFECT

No chylomicrons, VLDL, or LDL are formed because of defect in the loading of apo B with lipid

Answer 1

Hypolipoproteinemias
Abetalipoproteinermia

Question 2

DEFECT

All have low or near absence of HDL.

Answer 2

Familial α-lipoprotein deficiency
Tangier disease
Fish-eye disease
Apo A-I deficiencies

Question 3

DEFECT

Hypertriacylglycerolemia due to deficiency of LPL, abnormal LPL, or apo C-ll deficiency causing inactive LPL

Answer 3

Hyperlipoproteinemias
Familial lipoprotein lipase deficiency
(type I)

Question 4

DEFECT

Defective LDL receptors or mutation in ligand region of apo B-100

Answer 4

Familial hypercholesterolemia (type IIa)

Question 5

DEFECT

Deficiency in remnant clearance by the liver is due to abnormality in apo E. Patients lack isoforms E3 and E4 and have only E2, which does not react with the E receptor

Answer 5

Familial type III hyperlipoproteinemia
(broad β-disease, remnant removal disease, familial dysbetalipoproteinemia)

Question 6

DEFECT

Overproduction of VLDL often associated with glucose intolerance and hyperinsulinemia

Answer 6

Familial hypertriacylglycerolemia
(type IV)

Question 7

DEFECT

Increased concentrations of HDL

Answer 7

Familial hyperalphalipoproteinemia

Question 8

DEFECT

Deficiency of the enzyme leads to accumulation of large triacylglycerol-rich HDL and VLDL remnants

Answer 8

Hepatic lipase deficiency

Question 9

DEFECT

Absence of LCAT leads to block in reverse cholesterol transport. HDL remains as nascent disks incapable of taking up and esterifying cholesterol.

Answer 9

Familial lecithin:cholesterol acyltransferase (LCAT) deficiency

Question 10

DEFECT

Lp(a) consists of 1 mol of LDL attached to 1 mol
of apo(a). Apo(a) shows structural homologies to plasminogen

Answer 10

Familial lipoprotein(a) excess