Dictionary of Human Evolution and Biology

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Heritable condition with symptoms that include abdominal pain, xanthomas (in some types), and concentrations of LDL and plasma triglycerides in the blood; additional symptoms are secondary to obesity and/or cardiovascular disease. Type 1 is one of five major types and subtypes, all inherited. The defective enzyme is lipoprotein lipase (PLP, an autosomal recessive), but lipoprotein receptor-related protein 5 (LRP5) variants have also been implicated. PLP lines the walls of capillaries, and is activated by HDLs (high-density lipoproteins) such that it metabolizes LDLs (lowdensity lipoproteins, the so called bad cholesterol). The enzyme also regulates cell size; certain PLP alleles are expected to contribute to high concentrations of triglycerides and/or increased cell size (hypertrophy). Simple clinical tests are available to detect elevated HDL, LDL and triglycerides. Clinical severity is associated with apolipoptotein genotype. Aka Frederickson’s hyperlipoproteinemia, lipase D deficiency, leptin deficiency. Another variant (hyperlipoproteinemia, Type I(b), an autosomal recessive) causes hypoproteinemia due to apolipoprotein C-II deficiency, Type I. PLP, LRP5, and apoE variants are also implicated in type II diabetes.

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