Diseases & Conditions


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Familial Hypercholesterolemia


Synonyms of Familial Hypercholesterolemia
  • FH
  • FHC
  • 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.

Organizations related to Familial Hypercholesterolemia
  • American Heart Association
    National Center
    Dallas TX 75231-4596
    Phone #: 214-373-6300
    800 #: 800-242-8721
    e-mail: inquire@heart.org
    Home page: http://www.americanheart.org
  • Inherited High Cholesterol Foundation
    University of Utah
    Salt Lake City UT 84108
    Phone #: 801-581-8720
    800 #: 888-244-2465
    e-mail: N/A
    Home page: N/A
  • NIH/National Heart, Lung and Blood Institute Information Center
    P.O. Box 30105
    Bethesda MD 20824-0105
    Phone #: 301-592-8573
    800 #: --
    e-mail: nhlbiinfo@rover.nhlbi.nih.gov
    Home page: N/A



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