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Disease Profile
Familial hypercholesterolemia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
HYPERLIPOPROTEINEMIA, TYPE II; Hyperlipoproteinemia type IIA; Hyper-low density-lipoproteinemia;
Summary
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Symptoms
Signs and symptoms in individuals with the
- Elevated total and LDL cholesterol levels
- Coronary heart disease which can cause angina (heart pain), nonfatal or fatal heart attacks, need for angioplasty, or sudden death
- Cerebrovascular disease which may cause stroke or transient ischemic attack (TIA)
- Peripheral vascular disease which may cause pain when walking that is relieved by rest
- Aortic aneurysm that may rupture, causing catastrophic bleeding and often death
- Xanthomas (firm nodules under the skin caused by deposition of cholesterol on tendons)
- Corneal arcus (an opaque, white line within the margin of the cornea that is above or surrounds the cornea)
- Xanthelasmas (cholesterol deposits on, above or under the eyelids)
Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a heart attack by age 60. Affected women may have heart attacks in their 50s and 60s.[3]
Individuals with the rare,
Treatment
Drug therapy is also often necessary lifestyle changes may not be enough to lower cholesterol levels. Several different cholesterol-lowering medications may be used alone or in combination; they may include statins, bile acid sequestrants, ezetemibe, niacin, gemfibrozil, and fenofibrate.
Individuals with the more severe,
Management Guidelines
- The NORD Physician Guide for Familial hypercholesterolemia was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Rosuvastatin(Brand name: Crestor) Manufactured by iPR Pharmaceuticals, Inc.
FDA-approved indication: An adjunct to diet to reduce LDL-C, Total-C, nonHDL-C and ApoB in children and adolescents 7 to 17 years of age with homozygous familial hypercholesterolemia, either alone or with other lipid-lowering treatments (e.g., LDL apheresis).
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Lomitapide(Brand name: Juxtapid) Manufactured by Aegerion Pharmaceuticals, Inc.
FDA-approved indication: Adjunct to a low-fat diet and other lipid-lowering treatments, including LDL apheresis where available, to reduce low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), apolipoprotein B (apo B), and non-high-density lipoprotein cholesterol (non-HDL-C) in patients with homozygous familial hypercholesterolemia (HoFH).
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Mipomersen(Brand name: Kynamro) Manufactured by Kastle Therapeutics, LLC
FDA-approved indication: Adjunct to lipid-lowering medications and diet to reduce low density lipoprotein-cholesterol (LDL-C), apolipoprotein B (apo B), total cholesterol (TC), and non-high density lipoprotein-cholesterol (non-HDL-C) in patients with homozygous familial hypercholesterolemia (HoFH).
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Evolocumab(Brand name: Repatha) Manufactured by Amgen Inc.
FDA-approved indication: As an adjunct to diet and other LDL-lowering therapies (e.g., statins, ezetimibe, LDL apheresis) in patients with HoFH who require additional lowering of LDL-C.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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The FH Foundation
959 East Walnut Street
Suite 220
Pasadena, CA 91106
Telephone: 626-583-4674
E-mail: [email protected]
Website: https://www.thefhfoundation.org/
Organizations Providing General Support
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American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Toll-free: 800-242-8721
Telephone: 214-570-5978
E-mail: https://www.heart.org/en/forms/general-questions-and-latest-research-information
Website: https://www.heart.org -
American Stroke Association
National Center
7272 Greenville Avenue
Dallas, TX 75231
Telephone: 888-478-7653
Website: https://www.strokeassociation.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Familial hypercholesterolemia. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Familial hypercholesterolemia in a table called Phenotypic Series. Each entry in OMIM includes 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.
- 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
- Gidding SS. Familial hypercholesterolemia: a decade of progress. J Pediatr. 2010 Feb;156(2):176-7.
References
- Hypercholesterolemia. Genetics Home Reference (GHR). 2007; https://ghr.nlm.nih.gov/condition=hypercholesterolemia. Accessed 10/22/2013.
- Familial Hypercholesterolemia. NORD. July 25, 2011; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/811/viewAbstract. Accessed 10/22/2013.
- Learning About Familial Hypercholesterolemia. National Human Genome Research Institute (NHGRI). December 26, 2013; https://www.genome.gov/25520184.
- Learning About Familial Hypercholesterolemia. NHGRI. March 23, 2011; https://www.genome.gov/25520184#al-4. Accessed 10/22/2013.
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