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Hypercholesterolemia and Hypertriglyceridemia

Hypercholesterolemia and Hypertriglyceridemia is a topic covered in the Harrison's Manual of Medicine.

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Hyperlipoproteinemia may be characterized by hypercholesterolemia, isolated hypertriglyceridemia, or both. Genetic causes of hyperlipoproteinemia are summarized in Table 178-1. Diabetes mellitus, obesity, ethanol consumption, oral contraceptives, glucocorticoids, renal disease, hepatic disease, and hypothyroidism can cause secondary hyperlipoproteinemias or worsen underlying hyperlipoproteinemic states.

TABLE 178-1: PRIMARY HYPERLIPOPROTEINEMIAS CAUSED BY KNOWN SINGLE-GENE MUTATIONS
Genetic DisorderProtein (Gene) DefectLipoproteins ElevatedClinical FindingsGenetic TransmissionEstimated Incidence
Hypertriglyceridemia
Lipoprotein lipase deficiencyLPL (LPL)Chylomicrons, VLDLEruptive xanthomas, hepatosplenomegaly, pancreatitisAR~1/1,000,000
Familial apo CII deficiencyApo CII (APOC2)Chylomicrons, VLDLEruptive xanthomas, hepatosplenomegaly, pancreatitisAR<1/1,000,000
Apo A-V deficiencyApo A-V (APOA5)Chylomicrons, VLDLEruptive xanthomas, hepatosplenomegaly, pancreatitisAR<1/1,000,000
GPIHBP1 deficiencyGPIHBP1ChylomicronsEruptive xanthomas, pancreatitisAR<1/1,000,000
Combined Hyperlipidemia
Familial hepatic lipase deficiencyHepatic lipase (LIPC)VLDL remnants, HDLPancreatitis, CHDAR<1/1,000,000
Familial dysbetalipoproteinemiaApoE (APOE)Chylomicron remnants, VLDL remnantsPalmar and tuberoeruptive xanthomas, CHD, PVDAR~1/10,000
Hypercholesterolemia
Familial hypercholesterolemiaLDL receptor (LDLR)LDLTendon xanthomas, CHDAD~1/250 to 1/500
Familial defective apoB-100ApoB-100 (APOB)LDLTendon xanthomas, CHDAD<~1/1500
Autosomal dominant hypercholesterolemia, type 3PCSK9 (PCSK9)LDLTendon xanthomas, CHDAD<1/1,000,000
Autosomal recessive hypercholesterolemiaARH (LDLRAP)LDLTendon xanthomas, CHDAR<1/1,000,000
SitosterolemiaABCG5 or ABCG8LDLTendon xanthomas, CHDAR<1/1,000,000
Abbreviations: AD, autosomal dominant; apo, apolipoprotein; AR, autosomal recessive; ARH, autosomal recessive hypercholesterolemia; CHD, coronary heart disease; LDL, low-density lipoprotein; LPL, lipoprotein lipase; PVD, peripheral vascular disease; VLDL, very-low density lipoprotein.

Standard lipoprotein analysis assesses total cholesterol, HDL cholesterol, and triglycerides with a calculation of LDL cholesterol levels using the following equation: LDL cholesterol = total cholesterol – HDL cholesterol – (triglycerides/5). The LDL cholesterol concentration can be estimated using this method only if triglycerides are <4.0 mmol/L (<350 mg/dL). 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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Citation

Loscalzo, Joseph, et al., editors. "Hypercholesterolemia and Hypertriglyceridemia." Harrison's Manual of Medicine, 19th ed., McGraw Hill Inc., 2017. harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623100/all/Hypercholesterolemia_and_Hypertriglyceridemia.
Hypercholesterolemia and Hypertriglyceridemia. In: Loscalzo J, Jameson JL, Longo DL, et al, eds. Harrison's Manual of Medicine. 19th ed. McGraw Hill Inc.; 2017. https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623100/all/Hypercholesterolemia_and_Hypertriglyceridemia. Accessed April 18, 2019.
Hypercholesterolemia and Hypertriglyceridemia. (2017). In Loscalzo, J., Jameson, J. L., Longo, D. L., Hauser, S. L., Fauci, A. S., & Kasper, D. L. (Eds.), Harrison's Manual of Medicine. Available from https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623100/all/Hypercholesterolemia_and_Hypertriglyceridemia
Hypercholesterolemia and Hypertriglyceridemia [Internet]. In: Loscalzo J, Jameson JL, Longo DL, Hauser SL, Fauci AS, Kasper DL, editors. Harrison's Manual of Medicine. McGraw Hill Inc.; 2017. [cited 2019 April 18]. Available from: https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623100/all/Hypercholesterolemia_and_Hypertriglyceridemia.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Hypercholesterolemia and Hypertriglyceridemia ID - 623100 ED - Loscalzo,Joseph, ED - Jameson,J Larry, ED - Longo,Dan L, ED - Hauser,Stephen L, ED - Fauci,Anthony S, ED - Kasper,Dennis L, BT - Harrison's Manual of Medicine UR - https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623100/all/Hypercholesterolemia_and_Hypertriglyceridemia PB - McGraw Hill Inc. ET - 19 DB - Harrison's Manual of Medicine DP - Unbound Medicine ER -