Hyperlipoproteinemias and Hypolipop Flashcards

1
Q

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

A

Type 1 - Familial Chylomicronemia (Exogenous Hypertriglyceridemia)

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2
Q

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

A

Type 2a - Familial Hypercholesterolemia

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3
Q

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

A

Type 2b - Familial Combined Hyperlipoproteinemia

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4
Q

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

A

Type 3 - Familial Dysbetalipoproteinemia

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5
Q

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

A

Type 4 - Primary Hypertriglyceridemia

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6
Q

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

A

Type 5 - Mixed Hyperlipidemia

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7
Q

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

A

Increased Chylomicrons/VLDL

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8
Q

Increased LDL, Increased total cholesterol, xanthelasma, increased coronary heart disease (CHD); seen in

A

Type 2a and 2b

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9
Q

Yellow pruritic papulonodules associated with elevated triglycerides (TG)

A

Eruptive Xanthomas

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10
Q

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

A

Xanthelasma

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11
Q

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

A

Abetalipoproteinemia (Bassen-Kornzweig Syndrome)

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12
Q

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

A

Hypobetalipoproteinemia

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13
Q

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

A

Tangier Disease

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14
Q

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

A

Hypoalphalipoproteinemia

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15
Q

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

A

Arteriosclerosis

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16
Q

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

A

Hypercholesterolemia

17
Q

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

A

Hypertriglyceridemia

18
Q

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

A

Combined Hyperlipoproteinemia

19
Q

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

A

Familial Hypercholesterolemia (Type 2-a)

20
Q

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

A

Familial Dysbetalipoproteinemia (Type 3 Hyperlipoproteinemia)

21
Q

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

A

Abetalipoproteinemia (Bassen-Kornzweig Syndrome)

22
Q

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

A

Hypobetalipoproteinemia

23
Q

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

A

Niemann-Pick Disease

24
Q

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

A

Tangier’s Disease

25
Deficiency in lipoprotein lipase (LPL) enzyme, leading to impaired triglyceride hydrolysis and severe hypertriglyceridemia
Lipoprotein Lipase (LPL) Deficiency
26
Deficiency in Lecithin-Cholesterol Acyl Transferase (LCAT) leading to impaired cholesterol esterification and accumulation of free cholesterol
Lecithin Cholesterol Acyl Transferase (LCAT) Deficiency
27
Genetic disorder characterized by the accumulation of gangliosides, affecting the nervous system, leading to developmental regression
Tay-Sachs Disease