Chapter 181: Hypercholesterolemia and Hypertriglyceridemia
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Hyperlipoproteinemia is characterized by hypercholesterolemia, isolated hypertriglyceridemia, or both. Genetic causes of hyperlipoproteinemia are summarized in Table 181-1. Diabetes mellitus, obesity, ethanol consumption, oral contraceptives, glucocorticoids, renal disease, hepatic disease, and hypothyroidism can cause secondary hyperlipoproteinemias or worsen underlying hyperlipoproteinemic states.
GENETIC DISORDER | PROTEIN (GENE) DEFECT | LIPOPROTEINS ELEVATED | CLINICAL FINDINGS | GENETIC TRANSMISSION | ESTIMATED INCIDENCE |
---|---|---|---|---|---|
Hypertriglyceridemia | |||||
Lipoprotein lipase deficiency | LPL (LPL) | Chylomicrons, VLDL | Eruptive xanthomas, hepatosplenomegaly, pancreatitis | AR | ∼1/1,000,000 |
Familial apoC-II deficiency | ApoC-II (APOC2) | Chylomicrons, VLDL | Eruptive xanthomas, hepatosplenomegaly, pancreatitis | AR | <1/1,000,000 |
ApoA-V deficiency | ApoA-V (APOA5) | Chylomicrons, VLDL | Eruptive xanthomas, hepatosplenomegaly, pancreatitis | AR | <1/1,000,000 |
GPIHBP1 deficiency | GPIHBP1 | Chylomicrons | Eruptive xanthomas, pancreatitis | AR | <1/1,000,000 |
Combined hyperlipidemia | |||||
Familial hepatic lipase deficiency | Hepatic lipase (LIPC) | VLDL remnants, HDL | Pancreatitis, CHD | AR | <1/1,000,000 |
Familial dysbetalipoproteinemia | ApoE (APOE) | Chylomicron remnants, VLDL remnants | Palmar and tuberoeruptive xanthomas, CHD, PVD | AR | ∼1/10,000 |
Hypercholesterolemia | |||||
Familial hypercholesterolemia | LDL receptor (LDLR) | LDL | Tendon xanthomas, CHD | AD | ∼1/250 to 1/500 |
Familial defective apoB-100 | ApoB-100 (APOB) | LDL | Tendon xanthomas, CHD | AD | <∼1/1500 |
Autosomal dominant hypercholesterolemia, type 3 | PCSK9 (PCSK9) | LDL | Tendon xanthomas, CHD | AD | <1/1,000,000 |
Autosomal recessive hypercholesterolemia | ARH (LDLRAP) | LDL | Tendon xanthomas, CHD | AR | <1/1,000,000 |
Sitosterolemia | ABCG5 or ABCG8 | LDL | Tendon xanthomas, CHD | AR | <1/1,000,000 |
Standard lipoprotein analysis assesses total cholesterol, HDL cholesterol, LDL cholesterol, and triglycerides. Both LDL and HDL cholesterol levels are temporarily decreased for several weeks after myocardial infarction or acute inflammatory states, but can be accurately measured if blood is obtained within 8 h of the event.
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Hyperlipoproteinemia is characterized by hypercholesterolemia, isolated hypertriglyceridemia, or both. Genetic causes of hyperlipoproteinemia are summarized in Table 181-1. Diabetes mellitus, obesity, ethanol consumption, oral contraceptives, glucocorticoids, renal disease, hepatic disease, and hypothyroidism can cause secondary hyperlipoproteinemias or worsen underlying hyperlipoproteinemic states.
GENETIC DISORDER | PROTEIN (GENE) DEFECT | LIPOPROTEINS ELEVATED | CLINICAL FINDINGS | GENETIC TRANSMISSION | ESTIMATED INCIDENCE |
---|---|---|---|---|---|
Hypertriglyceridemia | |||||
Lipoprotein lipase deficiency | LPL (LPL) | Chylomicrons, VLDL | Eruptive xanthomas, hepatosplenomegaly, pancreatitis | AR | ∼1/1,000,000 |
Familial apoC-II deficiency | ApoC-II (APOC2) | Chylomicrons, VLDL | Eruptive xanthomas, hepatosplenomegaly, pancreatitis | AR | <1/1,000,000 |
ApoA-V deficiency | ApoA-V (APOA5) | Chylomicrons, VLDL | Eruptive xanthomas, hepatosplenomegaly, pancreatitis | AR | <1/1,000,000 |
GPIHBP1 deficiency | GPIHBP1 | Chylomicrons | Eruptive xanthomas, pancreatitis | AR | <1/1,000,000 |
Combined hyperlipidemia | |||||
Familial hepatic lipase deficiency | Hepatic lipase (LIPC) | VLDL remnants, HDL | Pancreatitis, CHD | AR | <1/1,000,000 |
Familial dysbetalipoproteinemia | ApoE (APOE) | Chylomicron remnants, VLDL remnants | Palmar and tuberoeruptive xanthomas, CHD, PVD | AR | ∼1/10,000 |
Hypercholesterolemia | |||||
Familial hypercholesterolemia | LDL receptor (LDLR) | LDL | Tendon xanthomas, CHD | AD | ∼1/250 to 1/500 |
Familial defective apoB-100 | ApoB-100 (APOB) | LDL | Tendon xanthomas, CHD | AD | <∼1/1500 |
Autosomal dominant hypercholesterolemia, type 3 | PCSK9 (PCSK9) | LDL | Tendon xanthomas, CHD | AD | <1/1,000,000 |
Autosomal recessive hypercholesterolemia | ARH (LDLRAP) | LDL | Tendon xanthomas, CHD | AR | <1/1,000,000 |
Sitosterolemia | ABCG5 or ABCG8 | LDL | Tendon xanthomas, CHD | AR | <1/1,000,000 |
Standard lipoprotein analysis assesses total cholesterol, HDL cholesterol, LDL cholesterol, and triglycerides. Both LDL and HDL cholesterol levels are temporarily decreased for several weeks after myocardial infarction or acute inflammatory states, but can be accurately measured if blood is obtained within 8 h of the event.
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