Familial hypercholesterolemia (FH) is a type of high cholesterol. It leads to higher levels of low-density lipoprotein (LDL) cholesterol in the blood. High levels of LDL cholesterol can cause problems, including a higher risk of heart disease.
FH is caused by a gene problem that is passed from parents to children. It can come from one or both parents. FH can be severe if both parents pass the gene to their child.
The gene problem makes it hard for the liver to remove LDL cholesterol from the blood.
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A parent will not always pass the gene problem to their child. If one parent has the gene problem, it raises the child's risk of FH. If both parents have the gene problem, the child's risk of FH is even higher.
FH itself does not cause symptoms. But 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:
The doctor will ask about symptoms and health history. A physical exam and blood tests will be done. To diagnose FH, the doctor will look for:
- Fatty deposits in skin, tendons, or eyes
- High cholesterol, especially in a young person
- Family history of high cholesterol
- Genetic testing
More tests may be done to rule out other conditions.
The goals of treatment are to:
- Lower LDL levels
- Lower the risk of problems such as heart disease or stroke
FH will need lifelong treatment. Treatment options include:
FH cannot be prevented.
- Familial hypercholesterolemia in adults. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/familial-hypercholesterolemia-in-adults.
- Familial hypercholesterolemia. National Organization of Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/familial-hypercholesterolemia.
- Soran, H. and Adam, S. Hypercholesterolaemia – practical information for non-specialists. Arch Med Sci, 2018; 14 (1): 1–21.
- Marcin Chwistek, MD
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