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should never be used for diagnostic or treatment purposes. If you have questions regarding
a medical condition, always seek the advice of your physician or other qualified health
professional. NORD's reports provide a brief overview of rare diseases. For more specific
information, we encourage you to contact your personal physician or the agencies listed as
"Resources" on this report.
Copyright 1991, 1995, 1996, 1998, 2006
NORD is grateful to Elena Citkowitz, MD, PhD, Director, Cholesterol Management Center, Hospital of St. Raphael, New Haven, CT, and Associate Clinical Professor of Medicine, Yale University School of Medicine, for assistance in the preparation of this report.
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
7272 Greenville Avenue
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: Review.personal.info@heart.org
Home page: http://www.americanheart.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MEDPED (Make Early Diagnosis To Prevent Early Death)
University of Utah
420 Chipeta Way Room 1160
Salt Lake City UT 84108
Phone #: 801-581-3888
800 #: 888-244-2465
e-mail: Paul.hopkins@utah.edu
Home page: http://www.medped.org/index.html
- 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
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