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Home > Genetic & Rare Diseases Information Center (GARD) > Familial hypercholesterolemia

* This condition is not a rare disease. It is a condition about which the GARD Information Center has received a question.

Familial hypercholesterolemia *
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Familial hypercholesterolemia 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.[1] Familial hypercholesterolemia is caused by abnormalities (mutations) in the low-density lipoprotein receptor (LDLR) gene, located on chromosome 19.[1][2] Proper diet, exercise, and certain medications can bring lipids (fats in the blood) down to safer levels and reduce the risk of heart disease and heart attacks.[2]

References
  1. Citkowitz E. Familial Hyperchyolesterolemia. National Organization for Rare Disorders (NORD). 2006 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Familial%20Hypercholesterolemia. Accessed October 15, 2009.
  2. Zieve D, Juhn G, Eltz DR, Gandelman G. Familial hypercholesterolemia. MedlinePlus. 2008 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm. Accessed October 15, 2009.

Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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More Detailed Information (Found 8 resources)
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  • General

    • eMedicine 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
    • Genetics Home Reference (GHR) contains a condition summary on Familial hypercholesterolemia. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • 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.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Familial hypercholesterolemia. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • 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.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 7 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

    • Inherited High Cholesterol Foundation
      University of Utah
      Salt Lake City UT 84108
      Phone: 801-581-8720
      Toll-free: 888-244-2465
  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Familial hypercholesterolemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm

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