Some types of high cholesterol, such as familial hypercholesterolemia (FH), are genetic. People with FH inherit changes in certain genes that affect how the body regulates and removes cholesterol from the blood.
Cholesterol plays an important role in the body, but high levels of low-density lipoprotein (LDL) cholesterol can increase the risk of cardiovascular diseases.
High cholesterol levels can have a genetic cause. The medical term for this is familial hypercholesterolemia (FH).
Estimates suggest that
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When someone inherits the necessary gene from one parent, they have “heterozygous FH.” If both biological parents have FH, their offspring can have a more severe form of the condition, which doctors call “homozygous FH.”
The CDC suggests 60% to 80% of people who have FH have a mutation in one of the following three genes:
- LDLR gene: The LDLR gene provides the instructions for making low-density lipoprotein (LDL) receptors on the outside of certain cell types. The LDL receptors pick up circulating LDLs in the blood and bring them in for the cell to use.
- APOB gene: The APOB gene allows LDLs to attach to LDL receptors, particularly those on liver cells.
- PCSK9 gene: The PCSK9 gene regulates the number of LDL receptors, making it important for controlling blood cholesterol levels.
Lipoproteins are proteins that transport cholesterol throughout the body. There are
- LDL cholesterol: This type is also known as “bad cholesterol.” It can accumulate in the arteries, impairing blood flow and increasing the risk of cardiovascular diseases.
- HDL cholesterol: This type is also known as “good cholesterol.” It absorbs cholesterol and transports it back to the liver, which removes it from the body.
FH affects the body’s ability to clear LDL cholesterol from the blood. The excess cholesterol builds up in the arteries, forming plaques that impair blood flow.
People with FH who do not receive treatment for the condition are more likely to develop atherosclerosis.
Atherosclerosis impairs the flow of oxygenated blood to vital organs, such as the heart and brain. It
FH is not the only cause of high cholesterol. Other causes
- lifestyle habits, including:
- high levels of saturated fats
- low activity levels
- smoking
- alcohol
- certain medications, including:
- underlying health conditions, such as:
Not everyone with FH experiences symptoms. However, the following can sometimes be a sign of the condition:
- bumps or lumps around the knees, knuckles, or elbows
- swelling or pain in the Achilles tendons
- yellowing around the eyes
- corneal arcus, which causes a whitish-gray or blueish half-moon on the outside of the cornea, which is the protective layer of the eye
The above signs may be due to the buildup of cholesterol in the relevant parts of the body.
According to the National Organization for Rare Diseases (NORD), doctors may consider a diagnosis of FH in children when the following factors are present:
- planar xanthomas, which are yellow, flat or slightly raised skin lesions
- corneal arcus
- high LDL cholesterol
- a family history of FH
If someone gets a FH diagnosis, a doctor may recommend that others in their immediate family undergo testing to initiate any necessary treatment.
Doctors can order genetic testing to clarify whether a person has FH. These tests check for variations in one of three genes: LDLR, APOB, and PCSK9.
However, the
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Healthcare professionals may recommend a combination of medication and lifestyle changes. They may recommend the following:
- avoid or quit smoking or vaping, if applicable
- eat a healthy diet high in fresh fruits, vegetables, and fiber
- limit saturated fats, trans fats, salt, and foods with added sugar
- limit alcohol consumption
- exercise regularly
- maintain or achieve a moderate body weight
Treatment may also
People with FH should also receive treatment for any accompanying cardiometabolic conditions, such as high blood pressure or type 2 diabetes.
It is not necessarily possible to prevent FH. However, seeking treatment
If someone has family members with FH, they can speak with a healthcare professional about screening to get started on treatment if necessary.
The outlook for a person with FH may depend on the form of the condition they have. People with heterozygous FH inherit a relevant genetic mutation from one biological parent.
According to NORD, people with heterozygous FH have an increased risk of developing CAD.
Individuals with homozygous FH inherit an FH genetic mutation from both biological parents and tend to develop symptoms in childhood. Without treatment, these individuals are at risk of dying before the age of 30 years.
Therefore, it is important that people discuss their cholesterol levels with a doctor. This is especially true for those with a family history of FH or other risk factors for high cholesterol.
High cholesterol levels can have various causes. One possible cause is the genetic condition familial hypercholesterolemia (FH).
People with this condition have a genetic mutation that impedes their body’s ability to clear cholesterol from the blood. This can lead to cardiovascular disease and an increased risk of heart attacks.
People with FH can make certain dietary and lifestyle changes to help manage their cholesterol but will also likely need to take cholesterol-lowering medications, such as statins.
Anyone with concerns about their cholesterol levels should speak with their doctor, particularly if they have a personal or family history of high cholesterol or other risk factors for high cholesterol.