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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial hypercholesterolemia

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* Not a rare disease

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Overview

Familial hypercholesterolemia (FH) is an inherited condition that causes abnormally high levels of LDL (low density lipoprotein) cholesterol beginning at birth. When too much LDL cholesterol is present in the blood stream, it builds up in the walls of the arteries and increases the risk of heart attacks and heart disease. Men with FH may have heart attacks in their 40s to 50s, and women with FH may have them in their 50s to 60s.[1] FH is most commonly caused by mutations in the LDLR gene and is usually inherited in an autosomal dominant manner. More rarely, it may be caused by mutations in other genes and can be inherited in an autosomal recessive manner.[2] Treatment focuses on lowering LDL cholesterol levels in the blood and may include dietary modification and medication.[1]
Last updated: 10/22/2013

References

  1. Learning About Familial Hypercholesterolemia. NHGRI. March 23, 2011; http://www.genome.gov/25520184. Accessed 10/22/2013.
  2. Pascale Benlian. Familial hypercholesterolemia. Orphanet. July 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=406. Accessed 10/22/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Familial hypercholesterolemia. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial hypercholesterolemia. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.