Treatment for Familial Hypercholesterolemia

Receiving news that you’ve been diagnosed with familial hypercholesterolemia (FH) can be scary. What does this mean for your overall health? How does it affect my daily life? How will it affect my family

By seeking help right away, you can live a longer, healthier life. That’s because the earlier you are diagnosed, the earlier you can start cholesterol lowering treatments that can slow down or prevent heart disease.

Working with an FH specialist, your treatment may consist of one or a combination of medications. Using these therapies is important to your long-term health and several treatment resources are available to help you succeed. In addition to treatment, it is important to maintain a heart healthy diet (low in saturated fat and cholesterol), regular exercise, and not smoke tobacco.

Is there a Cure for Familial Hypercholesterolemia?

Unlike high cholesterol that develops later in life due to age or lifestyle factors, high cholesterol levels in those with FH are present from birth. Treatment of this condition is a lifelong journey, requiring a combination of lifestyle and therapies to reduce high LDL (bad)-cholesterol. High cholesterol can be managed successfully despite the presence of a gene that raises cholesterol.

Taking medication regularly remains a crucial component of FH management to reduce the chance of a heart attack, or the need for stents or bypass surgery. Many patients find themselves taking more than one. Statins are first-line treatment. They are effective cholesterol lowering medications and are safe for those with FH including children.  Individuals with FH can be treated with additional medications, depending on the response to statins and medical recommendations, and often take more than one.

 

Cholesterol Lowering Medications for Familial Hypercholesterolemia

Style Adjustments

Statins

Statins

These medications block the production of cholesterol in the liver and make the liver use cholesterol from your bloodstream, thereby reducing your cholesterol.

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Cholesterol absorption inhibitor (ezetimibe)

Cholesterol absorption inhibitor (ezetimibe)

These medications work in the small intestine by decreasing cholesterol absorption.

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Bile acid sequestrant

Bile acid sequestrant

This medication also works in the intestine by binding bile. Since bile is composed, in large part, of cholesterol, these medications lead to loss of cholesterol in the stool.

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PCSK9 inhibitors

PCSK9 inhibitors

These antibodies target PCSK9, a protein that interferes with clearance of blood cholesterol.

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Advanced Treatment for Familial Hypercholesterolemia

Both individuals with FH, or individuals with Homozygous Familial Hypercholesterolemia (HoFH) a rare and severe form of FH, may need advanced treatments, in addition to the usual medications and lifestyle therapies.

This may include:

  • Lipoprotein apheresis: This treatment involves removing bad LDL-cholesterol from the blood. Since the cholesterol will build up again over time, this procedure is done every week to every other week. It is considered very safe and can be performed in patients as young as 3 years old. Find a lipoprotein apheresis center near you.

 

  • Lomitapide (brand name Juxtapid):  Lomitapide is a treatment designed to inhibit the function of microsomal triglyceride transfer protein (MTP), which plays an essential role in the liver and intestines by synthesizing lipoproteins that contain cholesterol.  Blocking MTP activity has been shown to reduce the level of LDL-C that is circulated in the bloodstream by 35-50% in individuals with homozygous FH, including those with no LDL receptors.  Lomitapide is approved by the FDA as an adjunct to a low-fat diet and other lipid-lowering treatments, including LDL apheresis where available, only for those with HoFH.  This is an oral medication, taken daily.  People taking lomitapide must follow a very low fat diet to minimize gastrointestinal side effects.  There are other potential side effects to consider.

 

  • Liver Transplant:  This treatment replaces your liver with a new liver that does not have any FH causing genes. It generally is reserved for very young patients with advanced atherosclerosis and no other treatment option.

Lifestyle Changes to Manage Familial Hypercholesterolemia

Lifestyle changes enhance the medication efficacy. Heart-healthy decisions benefit you and your entire family if they join you in your efforts. Don’t be afraid to seek advice from a nutrition expert, personal trainer, or fitness specialist.

Lifestyle management includes:

  • Diets low in saturated and trans fats, low in cholesterol
  • Regular exercise
  • Weight control
  • Not smoking
Lifestyle Changes to Manage Familial Hypercholesterolemia

Because hypertension, diabetes, and smoking are risk factors for heart disease, it is important for individuals with FH to adapt to get these under control as well with help from a doctor or nurse practitioner.

We also can connect you to other individuals with FH to see what works for them.  We can help you maintain your health through our CASCADE FH Patient Portal, which provides resources to track your heart health, medications, and more.

What's a good FH diet?

Eating a low-fat diet can help you manage the high cholesterol associated with FH. Our experts and FH community have put together recommendations for you.