Familial Hypercholesterolemia

National Organization for Rare Disorders, Inc.

It is possible that the main title of the report Familial Hypercholesterolemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • FHC
  • FH
  • Hyperlipoproteinemia, Type IIA
  • LDL Receptor Disorder

Disorder Subdivisions

  • Heterozygous Familial Hypercholesterolemia
  • Homozygous Familial Hypercholesterolemia

General Discussion

Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition characterized by very high levels of total cholesterol and low-density lipoprotein (LDL) cholesterol. This condition results in an increased risk for coronary heart disease and premature death and patients usually have close relatives with high LDL cholesterol and coronary heart disease (CHD) that developed at an early age. It is caused by abnormalities (mutations) in the low-density lipoprotein receptor (LDLR) gene. Heterozygous FH is the form of this condition that occurs when only one copy of an abnormal gene is present. Homozygous FH is the form of this condition that occurs when two copies of the abnormal gene are present, one inherited from each parent.


American Heart Association
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NIH/National Heart, Lung and Blood Institute Information Center
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Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

MEDPED (Make Early Diagnosis To Prevent Early Death)
University of Utah
420 Chipeta Way Room 1160
Salt Lake City, UT 84108
Tel: (801)581-3888
Fax: (801)581-5402
Tel: (888)244-2465
Email: Paul.hopkins@utah.edu
Internet: http://www.medped.org/index.html

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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