Familial hypercholesterolemia treatment often involves HMG-CoA reductase inhibitors (statins) to reduce LDL cholesterol. Advances in gene therapy also show promising results.

Familial hypercholesterolemia (FH) is a genetic disorder involving extremely high levels of LDL (low-density lipoprotein) cholesterol.

The main goal of treatment is to reduce these LDL levels to lower the risk of cardiovascular disease.

Lifestyle changes and medications can be useful in treating FH.

Eating a diet lower in fat and trying to avoid less healthy foods can be a good way to help reduce your cholesterol levels. Other general health tips that may help include not smoking and making sure you get enough restful sleep each night.

Exercise can also help keep your weight in a good range for you, which can also reduce cholesterol.

Your doctor may suggest medications you can take in combination with lifestyle changes to help manage your condition.

Statins (HMG-CoA Reductase Inhibitors) are the standard drug doctors use to treat FH.

Common examples of statins include:

  • simvastatin (Zocor)
  • lovastatin (Mevacor, Altoprev)
  • fluvastatin (Lescol)
  • rosuvastatin (Crestor)
  • atorvastatin (Lipitor)
  • pravastatin (Pravachol)

However, since many people with FH have such a high level of LDL, they often need additional therapies, such as monoclonal antibodies

Bile acid sequestrants help your body get rid of LDL cholesterol. Doctors typically prescribe these alongside statins.

Cholesterol is used by the body to form bile acid. Bile acid sequestrants work by binding to bile, so your body responds by producing more bile for digestion. As a result, more cholesterol will be taken out of your blood to make this bile.

Bile acid sequestrants include:

  • cholestyramine (Locholest, Prevalite, and Questran)
  • colesevelam (Welchol)
  • colestipol (Colestid)

Fibrates typically lower triglycerides but may also slightly lower LDL.

Fibrates include:

  • clofibrate (Atromid-S)
  • gemfibrozil (Lopid)
  • fenofibrate (Antara, Lofibra, and Triglide)

Fibrates can decrease your risk of cardiovascular problems by reducing levels of LDL cholesterol in your blood.

Monoclonal antibodies are a type of biologic medication.

These medications inactivate PCSK9, a protein that binds to and breaks down LDL receptors in the liver. LDL receptors remove LDL from the blood.

Medications that stop PCSK9 from binding to and breaking down LDL receptors mean that more of these receptors exist to remove cholesterol from the bloodstream.

The two PCSK9 inhibitors available in the United States are:

  • alirocumab (Praluent)
  • evolocumab (Repatha)

These monoclonal antibodies must be injected every 2 to 4 weeks.

You might be prescribed a PCSK9 inhibitor alongside statins.

This monoclonal antibody inhibits a protein called ANGPTL3.

ANGPTL3 is responsible for slowing the breakdown of fats in your bloodstream. If it’s inhibited, fat will get broken down faster. This means less LDL will be circulating in your bloodstream.

Evinacumab is usually used to treat homozygous FH and people whose LDL levels do not reduce enough with statins alone.

For some people, evinacumab may reduce LDL by an extra 10% to 30% than statins alone.

Lipoprotein apheresis is a procedure that may help lower cholesterol if lifestyle and other medications do not lower LDL cholesterol enough. It may also slow the progression of atherosclerosis and reduce the chance of cardiovascular problems.

A 2019 study suggests lipoprotein apheresis may be useful in treating homozygous FH in children with xanthomata (fatty growths under the skin) and high LDL cholesterol.

In rare instances, a liver transplant may be necessary in order to manage FH.

This may be because other treatments have not been able to reduce LDL enough to manage the condition.

Multiple treatment options are available to help manage FH. A personalized approach combining lifestyle measures, traditional lipid-lowering medication, and newer targeted therapies may help give you the best outlook.

Ongoing research into gene therapy and other new approaches may offer promise for even more effective treatments in the future.