How Familial Hypercholesterolemia Is Treated

Familial hypercholesterolemia (FH), also called pure hypercholesterolemia, is an inherited condition that affects the body’s ability to effectively get rid of extra LDL cholesterol, resulting in high levels of LDL in the blood. This can significantly increase the risk of heart disease.

FH is usually treated with a combination of medications and healthy lifestyle habits such as diet and exercise.

Home Remedies and Lifestyle

High cholesterol in people who don’t have FH is usually caused by lifestyle and can often be resolved or controlled with lifestyle changes. FH is not caused by lifestyle and usually cannot be successfully treated with healthy lifestyle habits alone.

However, lifestyle changes and healthy habits are still important supplementary treatments in addition to medication for FH.

Some lifestyle practices that can help to manage FH include: eating a heart-healthy diet, exercising regularly, maintaining a healthy weight, and avoiding smoking.

Over-the-Counter (OTC) Therapies

While some OTC supplements have been studied for their efficacy in lowering blood cholesterol, these are generally recommended for people who don’t need cholesterol-lowering medication.

People with FH typically need medication to keep their LDL at appropriate levels. Supplements are not a replacement for medication and can interfere with prescription medication. As such, supplements are not recommended for people with FH.

Prescriptions

If left untreated, FH can greatly increase the risk of cardiovascular events, such as a heart attack, at a young age. Thus, aggressive cholesterol-lowering medication is necessary to bring LDL cholesterol to appropriate levels. Medications that are typically prescribed include:

Statins

Statins are the most commonly prescribed drug treatment for FH. Statin medications help manage cholesterol levels, and also help to lower the risk of heart attack and stroke.

Adults with FH usually require high-intensity statin therapy, such as Lipitor (atorvastatin) 40–80 mg or Crestor (rosuvastatin) 20–40 mg.

Children with FH should be started at the lowest recommended dose. Dosage can then be increased as necessary, according to response and tolerability.

The most common side effect reported for statins is muscle aches and other muscle symptoms. This is rare, affecting less than one in 1,000 people treated with maximum recommended doses. The risk is even less at lower doses.

Statins may increase the risk of newly diagnosed diabetes mellitus in some people.

Overall, the benefits of high-intensity statin therapy for people with FH greatly outweigh the risks. Before starting statins, discuss both the benefits and risks with your healthcare provider.

Zetia

If target cholesterol levels are not reached with high-intensity statin therapy, the prescription Zetia (ezetimibe) may be prescribed. This medication is used to reduce the amount of cholesterol and other fatty substances in the blood by preventing the absorption of cholesterol in the intestine.

When co-administered with statins, ezetimibe has been shown to decrease LDC-C by up to 23% in people with FH.

Some side effects may include:

• Headache
• Dizziness
• Diarrhea
• Sore throat
• Runny nose
• Sneezing
• Joint pain

Before taking this medication, tell your healthcare provider about any other medications you are taking, including OTC meds and any supplements. Some medications that could interact with ezetimibe include:

• Coumadin (warfarin)
• Neoral, Sandimmune (cyclosporine)
• Tricor (fenofibrate)
• Lopid (gemfibrozil)
• Other anticoagulants (blood thinners)

If taking Questran (cholestyramine), Welchol (colesevelam), or Colestid (colestipol), it should be taken four hours before or two hours after ezetimibe.

Contact your healthcare provider if you become pregnant while taking ezetimibe.

PCSK9 Inhibitors

If optimal LDL levels are not reached with statins and ezetimibe, PCSK9 inhibitors may be added. This newer drug works to lower LDL levels by binding to LDL and inactivating a protein on cells found in the liver.

In 2015, the FDA approved the PCSK9 inhibitors Praluent (alirocumab) and Repatha (evolocumab) for use in people with FH who do not achieve LDL-C targets with the maximum tolerated doses of conventional lipid-lowering treatments.

Surgeries and Specialist-Driven Procedures

In the most severe cases of FH, the following treatment options may be used.

LDL Apheresis

LDL apheresis is a procedure similar to dialysis—a process of running blood through a machine that filters out waste and impurities. It is performed every few weeks to remove cholesterol from the blood.

To perform the procedure, blood or plasma is removed from the body. The extra LDL cholesterol is removed from the blood plasma using special filters. The blood plasma is then returned to the body.

Liver Transplant

A liver transplant may be used for people with severe FH (usually the more rare, more serious form called homozygous FH or HoFH) who do not respond well enough to other treatments.

A 2019 study showed that plasma LDL-C levels were lowered by 80% after a liver transplant in people with HoFH.

Liver transplants as a treatment for FH are very rare and carry risks. They are typically used as a last resort.

Summary

Treatment for familial hypercholesterolemia (FH) typically starts with a prescription for high-intensity statin therapy, which works to lower LDL levels. In more severe cases, additional prescription medication and other medical interventions may be recommended.

If you have FH, it is also recommended that you adopt a heart-healthy lifestyle, such as eating a low-fat, low-sodium diet, exercising regularly, and avoiding smoking. However, lifestyle strategies are rarely sufficient to manage this serious condition.

A Word From Verywell 

Familial hypercholesterolemia is a treatable condition. While there is no cure, LDL levels can be lowered and controlled, typically with aggressive cholesterol-lowering medications.

If you have FH or suspect that you may, see your healthcare provider for screening. If you do receive an FH diagnosis, they can help you find a treatment plan that is best for you.