What Is My Familial Hypercholesterolemia Inheritance Risk?

Learn about genetic mutations linked to the disorder and how it is passed down


Familial hypercholesterolemia (FH) is a genetic disorder that is caused by mutations that affect how your body processes low-density lipoprotein (LDL) cholesterol.

This article will discuss the risk of inheriting FH, as well as symptoms to be aware of and treatment options.

Cholesterol blood labs

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What Is Familial Hypercholesterolemia?

FH is a genetic disorder that results in elevated levels of LDL cholesterol in your blood. LDL cholesterol is also known as the "bad" cholesterol in your body. This is because LDL can clump together in the walls of blood vessels, increasing your risk of cardiovascular disease.

In cases of FH, genes that control cholesterol uptake and processing within the body are defective. If you have a family history of high cholesterol levels, particularly high levels at a young age, then you may want to consider consulting with your doctor about testing for FH.

How Common Is Familial Hypercholesterolemia?

The following are some highlights on the demographics and inheritance risk of FH:

  • FH is a relatively common genetic disorder, impacting around 1 in every 250 people in the United States and an estimated 10 million people around the world.
  • FH can be inherited from both biological parents. The severity of the disease lies on a spectrum from mild to severe, depending on the specific genes involved. 
  • FH impacts men and women at equal rates. Research suggests the condition may be slightly more prevalent in Black Americans than White, and slightly less prevalent in Mexican Americans and other populations.

Symptoms of Familial Hypercholesterolemia

The most important sign of FH is an elevated LDL cholesterol level. FH can cause elevated LDL cholesterol levels even in young adults or children.

Another early sign of high cholesterol is the development of small lumps of fat (called xanthomas) on the skin, knees, elbows, and eyelids.

Additional symptoms do not usually develop until late in the disease course, when the heart is affected. Left untreated, the most common symptom associated with long-term high cholesterol levels is chest pain. The chest pain is often in association with coronary artery disease, which can lead to a heart attack. 

How Is Familial Hypercholesterolemia Diagnosed and What Genes Are Involved?

Familial hypercholesterolemia is diagnosed using a combination of blood tests and genetic tests. Your healthcare provider will look at your cholesterol levels first to determine if they are elevated.

If you have a significant family history of high cholesterol and early-onset heart disease, then your healthcare provider may also recommend genetic testing to evaluate for FH.

You may have FH if you have mutations in one or more of the following genes:

  • Proprotein Convertase Subtilisin-like kexin type 9 (PCSK9)
  • LDL Receptor (LDLR)
  • Apolipoprotein B-100 (APOB)
  • Apolipoprotein C-II (APOCII)

While there are other genes associated with FH, these are the most common genes involved in the condition.

The severity of FH is determined by the specific genes that are involved. For example, genetic mutations in the PCSK9 and LDLR genes may result in higher cholesterol levels than mutations in other genes.

Management of Familial Hypercholesterolemia

Treatments for FH are targeted at lowering LDL cholesterol levels. LDL cholesterol is known to contribute most significantly to heart disease.

Lifestyle changes such as altering your diet, increasing your exercise levels, and eliminating smoking can all help lower cholesterol levels. But these lifestyle interventions are not usually sufficient to manage LDL levels in people with FH.

Treatment for FH typically requires prescription medications to effectively lower LDL levels. There are several medications available, including statins, Zetia (ezetimibe), and newer agents known as PCSK9 inhibitors that can be used to treat FH.

If you receive an FH diagnosis, your healthcare provider will work with you to develop a treatment plan that gives you the best chance of living a long, healthy life.  

COVID-19 and Familial Hypercholesterolemia

A known history of high cholesterol levels may place you at an increased risk for severe COVID-19 infection. This means if you are infected with COVID-19, there is a chance that you may require advanced medical treatment or even hospitalization.

If you take medications for high cholesterol, continue taking them as prescribed as these may help reduce your risk of severe COVID-19 infection.

Will My Children Develop Familial Hypercholesterolemia?

Since FH is transmitted through genetics, there is a chance you could pass on the disorder to your children. If both you and your partner have hypercholesterolemia, there is a greater chance of transmitting the disease.

However, there are many genes that play a role in determining cholesterol levels. Just because your genes are transmitted to your children does not always mean they will develop hypercholesterolemia.

Certain forms of hypercholesterolemia have polygenic inheritance, meaning that they require several genes to be defective in order to cause hypercholesterolemia.

Working closely with your healthcare provider and a genetic counselor will help you evaluate your risk for passing on hypercholesterolemia to your children.

Summary

FH is an inherited condition that can cause elevated levels of bad LDL cholesterol. If you have a parent with FH or high cholesterol or if you have a family history of early-onset heart disease, it is important to get regular blood tests and work with your healthcare provider to monitor your LDL cholesterol levels. If caught early and treated with appropriate medication, FH is a very manageable condition.

A Word From Verywell

Familial hypercholesterolemia is a genetic disorder that can cause high LDL cholesterol levels. If you have FH, know that you did nothing to cause this disorder. Also know that with appropriate treatment and lifestyle changes, people with hypercholesterolemia can live long, healthy, and fulfilling lives.

Frequently Asked Questions

  • What is the inheritance pattern for hypercholesterolemia?

    Familial hypercholesterolemia can be inherited from one parent (heterozygous) or both parents (homozygous). If both parents have familial hypercholesterolemia, then a child may have two copies of the gene mutation (homozygous), which can lead to a more severe form of hypercholesterolemia. 

  • How do you know if you have high cholesterol or hypercholesterolemia?

    Blood tests to measure your lipid levels can tell you if you have high cholesterol. If you have high cholesterol, especially at an early age, and also a family history of early heart problems, your healthcare provider may recommend genetic testing to see if you have gene mutations related to family hypercholesterolemia.

  • What is the life expectancy for someone with familial hypercholesterolemia?

    People living with familial hypercholesterolemia are at risk of developing blockages in the arteries called atherosclerosis. These blockages can potentially lead to a heart attack or other cardiovascular diseases which can result in a reduced life expectancy. Without medical treatment, people with the most severe forms of familial hypercholesterolemia may not live beyond their 20s. However, with appropriate treatment, people can live with familial hypercholesterolemia into their 70s.

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