Familial hypercholesterolemia: a challenge of diagnosis and therapy

Cleve Clin J Med. 2006 Jan;73(1):57-64. doi: 10.3949/ccjm.73.1.57.


People with familial hypercholesterolemia (FH) have dramatically high levels of low-density lipoprotein cholesterol (LDL-C), which can lead to accelerated atherosclerosis and, if untreated, early cardiovascular death. Although the heterozygous form of FH is often unrecognized, detecting it early can enable risk reduction before premature coronary heart disease occurs.

Publication types

  • Review

MeSH terms

  • Cholesterol, LDL / blood
  • Humans
  • Hyperlipoproteinemia Type II / complications
  • Hyperlipoproteinemia Type II / diagnosis*
  • Hyperlipoproteinemia Type II / therapy*
  • Physical Examination
  • Xanthomatosis / diagnosis
  • Xanthomatosis / etiology


  • Cholesterol, LDL