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|
|Copyright © Nucleus Medical Media, Inc.|
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:
- Coronary artery disease (CAD)
- Heart attack
- Early death
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:
To help lower cholesterol levels, the doctor may advise:
A diet that is
- Low in saturated fats and cholesterol
- High in grains, fruits, vegetables, nuts, and legumes
- Low in alcohol
- Regular physical activity
- Not smoking
- Reaching and keeping a healthy weight
Diet and exercise alone may not be enough. Medicines may be given to lower LDL cholesterol. Options may be:
- Alirocumab or evolocumab
Severe forms of FH may need:
- Apheresis—a machine that pulls LDL out of the blood
- Liver transplant —for those not helped with medicine
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
Edits to original content made by Denver Health.
Copyright © EBSCO Information Services
All rights reserved.
National Heart, Lung, and Blood Institute https://www.nhlbi.nih.gov
NORD—National Organization for Rare Disorders https://rarediseases.org
Dietitians of Canada https://www.dietitians.ca
Heart and Stroke Foundation of Canada http://www.heartandstroke.ca
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.