Phenotypic variability in familial hypercholesterolaemia: an update

Curr Opin Lipidol. 2002 Apr;13(2):165-71. doi: 10.1097/00041433-200204000-00008.


Heterozygous familial hypercholesterolaemia is among the most common inherited dominant disorders, and is characterized by severely elevated LDL-cholesterol levels and premature cardiovascular disease. Although the cause of familial hypercholesterolaemia is monogenic, there is a substantial variation in the onset and severity of atherosclerotic disease symptoms. Additional atherogenic risk factors of environmental, metabolic and genetic origin, in conjunction with the LDL receptor defect, are presumed to influence the clinical phenotype in familial hypercholesterolaemia. The present review discusses recent developments in this field.

Publication types

  • Review

MeSH terms

  • Chromosome Deletion
  • Genetic Variation
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Hyperlipoproteinemia Type II / therapy
  • Lipid Metabolism
  • Mutation
  • Phenotype
  • Receptors, LDL / physiology*


  • Receptors, LDL