Hyperlipoproteinemias and Hypolipop

Question 1

Deficiency in Lipoprotein Lipase (LPL); presents with eruptive xanthomas, acute pancreatitis, and increased triglycerides

Answer 1

Type 1 - Familial Chylomicronemia (Exogenous Hypertriglyceridemia)

Question 2

LDL defect; presents with xanthelasma, premature coronary heart disease (CHD), and increased LDL and total cholesterol

Answer 2

Type 2a - Familial Hypercholesterolemia

Question 3

LDL and VLDL defect; presents with isolated xanthelasma, premature CHD, and increased LDL, total cholesterol, and triglycerides

Answer 3

Type 2b - Familial Combined Hyperlipoproteinemia

Question 4

APO E defect; presents with eruptive xanthomas, premature CHD, and increased total cholesterol and triglycerides

Answer 4

Type 3 - Familial Dysbetalipoproteinemia

Question 5

Hepatic lipase deficiency; presents with eruptive xanthomas, premature CHD, and increased triglycerides, normal HDL and total cholesterol

Answer 5

Type 4 - Primary Hypertriglyceridemia

Question 6

Chylomicron and VLDL defect; presents with eruptive xanthomas, pancreatitis, and premature CHD

Answer 6

Type 5 - Mixed Hyperlipidemia

Question 7

Increased triglycerides (TG), xanthomas, and increased risk for pancreatitis

Answer 7

Increased Chylomicrons/VLDL

Question 8

Increased total cholesterol, xanthelasma, increased coronary heart disease (CHD); seen in Type 2a and 2b

Answer 8

Increased LDL

Question 9

Yellow pruritic papulonodules associated with elevated triglycerides (TG)

Answer 9

Eruptive Xanthomas

Question 10

Yellow periorbital papules associated with high cholesterol; seen in Type 2a and 2b

Answer 10

Xanthelasma

Question 11

Autosomal recessive disorder causing absent apoB48 and apoB100, very low total cholesterol, nearly undetectable triglycerides

Answer 11

Abetalipoproteinemia (Bassen-Kornzweig Syndrome)

Question 12

Autosomal dominant disorder with low total cholesterol and normal to low triglycerides due to mutations in the apoB gene

Answer 12

Hypobetalipoproteinemia

Question 13

Rare autosomal recessive disorder characterized by low to undetectable HDL due to ABCA1 gene mutation

Answer 13

Tangier Disease

Question 14

Common autosomal dominant disorder with HDL-C levels <30 mg/dL (men) or <40 mg/dL (women)

Answer 14

Hypoalphalipoproteinemia

Question 15

Deposition of esterified cholesterol in artery walls, leading to smooth muscle cells, lipid accumulation, calcification, and fibrous tissue formation

Answer 15

Arteriosclerosis

Question 16

Increased cholesterol levels, especially LDL, and decreased receptors causing lipid accumulation in blood vessels

Answer 16

Hypercholesterolemia

Question 17

Increased triglycerides, decreased Lipoprotein Lipase (LPL) or Apo C-II, leading to remnants of VLDL and chylomicrons

Answer 17

Hypertriglyceridemia

Question 18

Increased triglycerides and cholesterol, with increased VLDL and chylomicron remnants, and presence of Apo E2/2

Answer 18

Combined Hyperlipoproteinemia

Question 19

Autosomal dominant disorder causing elevated cholesterol levels, increased LDL, and a risk for coronary artery disease (CAD)

Answer 19

Familial Hypercholesterolemia (Type 2-a)

Question 20

Type 3 hyperlipoproteinemia with increased triglycerides and cholesterol, and presence of Apo E2/2 causing premature atherosclerosis

Answer 20

Familial Dysbetalipoproteinemia (Type 3 Hyperlipoproteinemia)

Question 21

Autosomal recessive disorder with absent ApoB48 and ApoB100, resulting in low cholesterol and nearly undetectable triglycerides

Answer 21

Abetalipoproteinemia (Bassen-Kornzweig Syndrome)

Question 22

Autosomal dominant disorder characterized by low cholesterol levels due to mutations in the ApoB gene

Answer 22

Hypobetalipoproteinemia

Question 23

Lipid storage disorder caused by defective lipid metabolism, often leading to organ enlargement and neurological issues

Answer 23

Niemann-Pick Disease

Question 24

Rare autosomal recessive disorder characterized by low HDL due to mutation in the ABCA1 gene

Answer 24

Tangier’s Disease

Question 25

Deficiency in lipoprotein lipase (LPL) enzyme, leading to impaired triglyceride hydrolysis and severe hypertriglyceridemia

Answer 25

Lipoprotein Lipase (LPL) Deficiency

Question 26

Deficiency in Lecithin-Cholesterol Acyl Transferase (LCAT) leading to impaired cholesterol esterification and accumulation of free cholesterol

Answer 26

Lecithin Cholesterol Acyl Transferase (LCAT) Deficiency

Question 27

Genetic disorder characterized by the accumulation of gangliosides, affecting the nervous system, leading to developmental regression

Answer 27

Tay-Sachs Disease