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 characterized by extremely high levels of LDL (low-density lipoprotein) cholesterol.
The primary 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
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 are the
Common examples include:
- simvastatin (Zocor)
- lovastatin (Mevacor, Altoprev)
- fluvastatin (Lescol)
- rosuvastatin (Crestor)
- atorvastatin (Lipitor)
- pravastatin (Pravachol)
Bile acid sequestrants help your body get rid of LDL cholesterol. Doctors typically prescribe these alongside statins.
Bile acid is formed using cholesterol. Bile acid sequestrants work by binding to bile, so your body needs to procduce more bile for digestion. This means more cholesterol will be taken out of your blood to make the bile.
Bile acid sequestrants include:
- cholestyramine (Locholest, Prevalite, and Questran)
- colesevelam (Welchol)
- colestipol (Colestid)
Fibrates typically lower triglycerides but may also have a slight effect in lowering LDL.
Fibrates include:
- clofibrate (Atromid-S)
- gemfibrozil (Lopid)
- fenofibrate (Antara, Lofibra, and Triglide)
Fibrates can
These 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. So, stopping PCSK9 from binding means 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 medication inhibits a protein called ANGPTL3. ANGPTL3 slows the breakdown of fats in your bloodstream, so inhibiting it will allow fat to 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 patients, evinacumab may reduce LDL by an extra
Lipoprotein apheresis is a procedure that
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In rare instances, a liver transplant
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.