Familial hypercholesterolaemia: a review with emphasis on evidence for treatment, new models of care and health economic evaluations

Int J Evid Based Healthc. 2012 Sep;10(3):211-21. doi: 10.1111/j.1744-1609.2012.00272.x.


Familial hypercholesterolaemia (FH) is a condition that should be familiar to all health professionals involved in preventive medicine. FH is the most common and serious monogenic disorder of lipid metabolism that leads to premature coronary heart disease. However, most cases remain undetected or inadequately treated in our community. We provide an overview of FH, with emphasis on evidence for treatment, new models of care (MoCs) and health economic evaluations. Evidence for treatment is based on cohort studies; while this is a low level class of evidence, MoCs concur in recommending early intervention and lowering of plasma low-density lipoprotein-cholesterol levels by at least 40% with statins. Preliminary health economic evaluations suggest that detecting and treating FH is cost-effective, but further studies based on high-quality international data and standardised costing methods are needed. If the recommendations in the published MoCs are followed, there is likely to be significant improvement in the health and quality of life of patients with FH and their families, as well as major cost savings in healthcare for end-organ damage, including myocardial infarction, acute coronary syndromes and possibly stroke, but this requires to be verified.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Apolipoproteins B / blood
  • Cholesterol, LDL / blood
  • Cost-Benefit Analysis
  • Diet
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / economics
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / economics
  • Hyperlipoproteinemia Type II / physiopathology*
  • Hypolipidemic Agents / economics
  • Hypolipidemic Agents / therapeutic use*


  • Apolipoproteins B
  • Cholesterol, LDL
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Hypolipidemic Agents