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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial hypercholesterolemia

*

* Not a rare disease

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Treatment

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How might familial hypercholesterolemia be treated?

The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream. The first step in treatment for individuals with the heterozygous form (also called the autosomal dominant form) is changing the diet to reduce the total amount of fat eaten. This may be accomplished by limiting the amount of beef, pork, and lamb in the diet; cutting out butter, whole milk, fatty cheeses and oils; and eliminating egg yolks, organ meats and other sources of saturated fat from animals. Dietary counseling is often recommended to help individuals change their eating habits. Exercise and weight loss may also help in lowering cholesterol levels.

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 statinsbile acid sequestrants, ezetemibe, niacin, gemfibrozil, and fenofibrate.

Individuals with the more severe, homozygous form of FH (also called the autosomal recessive form) need more aggressive therapies to treat their significantly elevated levels of cholesterol. Drug therapy is often not effective enough at lowering LDL cholesterol levels. Therefore, individuals with this form may need periodical LDL apheresis, a procedure that removes LDL from the blood. In some cases, major surgery such as a liver transplant is necessary.[1]
Last updated: 10/22/2013

References
  1. Learning About Familial Hypercholesterolemia. NHGRI. March 23, 2011; http://www.genome.gov/25520184#al-4. Accessed 10/22/2013.


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. 

Clinical Trials & Research for this Disease

  • 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, enter the disease name in the "Text Search" box. Then click "Submit Query".

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name rosuvastatin
Trade Name
(Manufacturer Name)
Crestor
(iPR Pharmaceuticals, Inc.)
Indication
The FDA has approved this product to be used in this manner.
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).
More Information about this product Drug Information Portal
Medline Plus Health Information

Generic Name Evolocumab
Trade Name
(Manufacturer Name)
Repatha
(Amgen Inc.)
Indication
The FDA has approved this product to be used in this manner.
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.
More Information about this product Drug Information Portal
Medline Plus Health Information

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