Familial hypercholesterolemia--improving treatment and meeting guidelines.
Familial hypercholesterolemia (FH) is a common, inherited disorder that affects around one in 500 individuals in the heterozygous form. By the year 2001, more people in the US had FH than were infected by the human immunodeficiency virus. The disease is caused by mutations within the low-density lipoprotein (LDL) receptor gene. FH is associated with elevated plasma LDL-cholesterol (LDL-C) levels, xanthomatosis, early onset of atherosclerosis and premature cardiac death. Patients with heterozygous FH commonly have plasma LDL-C levels that are two-fold higher than normal, while homozygotes have four- to five-fold elevations in plasma LDL-C. Although FH patients have a high risk of developing premature coronary heart disease (CHD), they remain underdiagnosed and undertreated. Early detection of FH is critical to prolonging the life of these patients. Once identified, patients with heterozygous FH can be placed on a diet and drug management program. As the most efficacious and well-tolerated agents, hydroxy methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors (statins) are usually the drugs of first choice; bile acid sequestrants, niacin, and occasionally fibrates may be used as supplemental agents. Statins may also provide a realistic option for the treatment of some FH homozygotes with genes that produce partially functional LDL receptors. However, a number of patients are still failing to reach treatment guidelines even with the most effective of the currently available statins. The development of new more efficacious statins or the use of new combination therapies such as statins with the cholesterol absorption inhibitor, ezetimibe may help to reduce the current problem of undertreatment in FH patients.
School of Medicine, University of Utah, 410 Chipeta Way, Room 167, Salt Lake City, UT 84108, USA. paul@ucvg.med.utah.edu
Paul N
PN
Hopkins
D000924:Anticholesteremic Agents / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D015316:Genetic Therapy; D019983:Guideline Adherence; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*
D000924:Anticholesteremic Agents; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors