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by Scholten A

Familial Hypercholesterolemia

(FH)

Definition

Familial hypercholesterolemia (FH) is a type of high cholesterol. It leads to higher levels of bad cholesterol (LDL) in the blood.
People with FH have a higher risk of heart disease.

Causes

FH is caused by a faulty gene that is passed from parents to children. It can come from one or both parents. FH can be severe if both parents have the gene.
The faulty gene makes it hard for the liver to remove LDL from the blood.
The Liver and Other Organs
IMAGE
Copyright © Nucleus Medical Media, Inc.

Risk Factors

The parent will not always pass the faulty gene to their child. However, if one parent has the gene defect, it raises the child's risk of FH. If both parents have the gene defect, the child's risk of FH is even higher.

Symptoms

FH itself does not cause symptoms. However, high levels of LDL can lead to:
  • Thick and painful tendons
  • Xanthomas—fatty deposits under the skin
  • Xanthelasmas—fatty deposits on the eyelids
  • Eye problems—due to fatty deposits on the cornea
FH raises the risk of heart and blood vessel disease at a young age. This can lead to:

Diagnosis

A physical exam and blood tests will be done. To make a diagnosis, the doctor will look for:
  • Fatty deposits in skin, tendons, or eyes
  • High cholesterol, especially in young person
  • Family history of high cholesterol
  • Genetic testing
Other tests may be done to rule out other conditions.

Treatment

FH will need lifelong treatment. The goal of treatment is to:
  • Lower LDL levels
  • Lower the risk of problems such as heart disease or stroke
Treatment options include:

Lifestyle Changes

To help lower cholesterol levels, the doctor may advise:

Medicine

Diet and exercise alone may not be enough. Medicines may be given to lower LDL cholesterol. Options may be:
  • Statins
  • Alirocumab or evolocumab

Other Treatments

Severe forms of FH may need:
  • Apheresis—a machine that pulls LDL out of the blood
  • Liver transplant —for those not helped with medicine

Prevention

FH cannot be prevented.

RESOURCES

National Heart, Lung, and Blood Institute
https://www.nhlbi.nih.gov
NORD—National Organization for Rare Disorders
https://rarediseases.org

CANADIAN RESOURCES

Dietitians of Canada
https://www.dietitians.ca
Heart and Stroke Foundation of Canada
http://www.heartandstroke.ca

References

Familial hypercholesterolemia. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/familial-hypercholesterolemia. Accessed January 20, 2021.
Familial hypercholesterolemia. National Organization of Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/familial-hypercholesterolemia. Accessed January 20, 2021.
Familial hypercholesterolemia. Genetics Home Reference——US National Library of Medicine website. Available at: https://medlineplus.gov/genetics/condition/familial-hypercholesterolemia. Accessed January 20, 2021.
Soran H, Adam S. Hypercholesterolaemia – practical information for non-specialists. Arch Med Sci. 2018 Jan; 14(1): 1–21.

Revision Information

  • Reviewer: EBSCO Medical Review Board Marcin Chwistek, MD
  • Review Date: 02/2020
  • Update Date: 01/19/2021