What Are the Treatment Options for Familial Hypercholesterolemia?
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.
Lifestyle changes
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)
Statins are the standard drug doctors use to treat FH. However, since many patients with FH have such a high level of LDL, they often need additional therapies, such as monoclonal antibodies.
Common examples include:
simvastatin (Zocor)
lovastatin (Mevacor, Altoprev)
fluvastatin (Lescol)
rosuvastatin (Crestor)
atorvastatin (Lipitor)
pravastatin (Pravachol)
»Learn more about statins.
Bile Acid Sequestrants
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
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 decrease the risk of cardiovascular problems by reducing the levels of LDL cholesterol in your blood.
Monoclonal antibodies
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.
»Learn more about PCSK9 inhibitors
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 10% to 30% than statins alone.
Lipoprotein apheresis
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 and high LDL cholesterol.
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