Hyperlipoproteinemias and Hypolipop Flashcards
Deficiency in Lipoprotein Lipase (LPL); presents with eruptive xanthomas, acute pancreatitis, and increased triglycerides
Type 1 - Familial Chylomicronemia (Exogenous Hypertriglyceridemia)
LDL defect; presents with xanthelasma, premature coronary heart disease (CHD), and increased LDL and total cholesterol
Type 2a - Familial Hypercholesterolemia
LDL and VLDL defect; presents with isolated xanthelasma, premature CHD, and increased LDL, total cholesterol, and triglycerides
Type 2b - Familial Combined Hyperlipoproteinemia
APO E defect; presents with eruptive xanthomas, premature CHD, and increased total cholesterol and triglycerides
Type 3 - Familial Dysbetalipoproteinemia
Hepatic lipase deficiency; presents with eruptive xanthomas, premature CHD, and increased triglycerides, normal HDL and total cholesterol
Type 4 - Primary Hypertriglyceridemia
Chylomicron and VLDL defect; presents with eruptive xanthomas, pancreatitis, and premature CHD
Type 5 - Mixed Hyperlipidemia
Increased triglycerides (TG), xanthomas, and increased risk for pancreatitis
Increased Chylomicrons/VLDL
Increased total cholesterol, xanthelasma, increased coronary heart disease (CHD); seen in Type 2a and 2b
Increased LDL
Yellow pruritic papulonodules associated with elevated triglycerides (TG)
Eruptive Xanthomas
Yellow periorbital papules associated with high cholesterol; seen in Type 2a and 2b
Xanthelasma
Autosomal recessive disorder causing absent apoB48 and apoB100, very low total cholesterol, nearly undetectable triglycerides
Abetalipoproteinemia (Bassen-Kornzweig Syndrome)
Autosomal dominant disorder with low total cholesterol and normal to low triglycerides due to mutations in the apoB gene
Hypobetalipoproteinemia
Rare autosomal recessive disorder characterized by low to undetectable HDL due to ABCA1 gene mutation
Tangier Disease
Common autosomal dominant disorder with HDL-C levels <30 mg/dL (men) or <40 mg/dL (women)
Hypoalphalipoproteinemia
Deposition of esterified cholesterol in artery walls, leading to smooth muscle cells, lipid accumulation, calcification, and fibrous tissue formation
Arteriosclerosis
Increased cholesterol levels, especially LDL, and decreased receptors causing lipid accumulation in blood vessels
Hypercholesterolemia
Increased triglycerides, decreased Lipoprotein Lipase (LPL) or Apo C-II, leading to remnants of VLDL and chylomicrons
Hypertriglyceridemia
Increased triglycerides and cholesterol, with increased VLDL and chylomicron remnants, and presence of Apo E2/2
Combined Hyperlipoproteinemia
Autosomal dominant disorder causing elevated cholesterol levels, increased LDL, and a risk for coronary artery disease (CAD)
Familial Hypercholesterolemia (Type 2-a)
Type 3 hyperlipoproteinemia with increased triglycerides and cholesterol, and presence of Apo E2/2 causing premature atherosclerosis
Familial Dysbetalipoproteinemia (Type 3 Hyperlipoproteinemia)
Autosomal recessive disorder with absent ApoB48 and ApoB100, resulting in low cholesterol and nearly undetectable triglycerides
Abetalipoproteinemia (Bassen-Kornzweig Syndrome)
Autosomal dominant disorder characterized by low cholesterol levels due to mutations in the ApoB gene
Hypobetalipoproteinemia
Lipid storage disorder caused by defective lipid metabolism, often leading to organ enlargement and neurological issues
Niemann-Pick Disease
Rare autosomal recessive disorder characterized by low HDL due to mutation in the ABCA1 gene
Tangier’s Disease
Deficiency in lipoprotein lipase (LPL) enzyme, leading to impaired triglyceride hydrolysis and severe hypertriglyceridemia
Lipoprotein Lipase (LPL) Deficiency
Deficiency in Lecithin-Cholesterol Acyl Transferase (LCAT) leading to impaired cholesterol esterification and accumulation of free cholesterol
Lecithin Cholesterol Acyl Transferase (LCAT) Deficiency
Genetic disorder characterized by the accumulation of gangliosides, affecting the nervous system, leading to developmental regression
Tay-Sachs Disease
