Overview of HeFH

HeFH is shorthand for heterozygous familial hypercholesterolemia. It’s a genetic condition that causes very high levels of low-density lipoprotein (LDL) cholesterol.

If you have HeFH, it means you inherited the genetic mutation from only one parent. When it’s inherited from both parents, it’s called homozygous familial hypercholesterolemia (HoFH).

HeFH causes your body to produce so much LDL that your liver can’t keep up with it. So the LDL continues to build up in your blood stream.

An LDL under 129 mg/dL is considered optimal. Children with HeFH may have an LDL level above 160 mg/dL. Adults with HeFH are commonly above 190 mg/dL.

If you have HeFH, you may have developed high cholesterol before you were born. Even at a young age, HeFH dramatically increases the risk of stroke, heart disease, and heart attack.

In addition to vascular problems, the buildup of cholesterol can cause yellow bumps, called nodules, to appear on the skin. Cholesterol can also build up on the eyelids.

Diet and exercise play an important role in reducing LDL cholesterol. But if you have HeFH, you’ll likely also need treatment to get your LDL closer to the normal range.

Treatment options for HeFH

There’s no cure for HeFH, so you’ll need to monitor and manage the condition throughout your life. The goal is to lower LDL levels as much as possible to reduce the serious health risks associated with high LDL. Treatments options include healthy lifestyle habits and a variety of medications.

Lifestyle

While lifestyle alone usually isn’t enough to get HeFH under control, it still matters. Your doctor will recommend a diet low in saturated fat and trans-fats, but high in fiber. You might find it helpful to work with a nutritionist.

Regular exercise is also a good way to lower your LDL cholesterol. To further reduce risk factors for heart disease and stroke, try to maintain a healthy weight and avoid smoking.

Statins

Most people with HeFH will also need medication designed to lower cholesterol. Usually, that means high potency statins. There are many statins on the market, including atorvastatin (Lipitor), rosuvastatin (Crestor), and simvastatin (Zocor). Some people experience muscle pain or have muscle damage from taking statins.

Bile acid binding resins

These medications help your liver use cholesterol to make more bile acids. This improves digestion. This process helps to lower the amount of cholesterol in your blood. Some bile acid binding resins are cholestyramine (Prevalite), colesevelam (Welchol), and colestipol (Colestid).

Cholesterol absorption inhibitors

A drug called ezetimibe (Zetia) helps to control how much cholesterol your small intestine can absorb. It can be used in combination with a statin.

Combination drugs

Vytorin is a combination of the cholesterol absorption inhibitor ezetimibe and the statin simvastatin.

If your medications aren’t getting good results and your LDL is dangerously high, your doctor may consider a procedure called apheresis. This procedure uses donor blood to separate certain components and transfer them to you.

A liver transplant is another possibility, but it’s rare for HeFH. This procedure is so risky that it’s used only when all other options fail.

If you also have high triglycerides, high blood pressure, or other health problems, you must also address them.

A new type of drug therapy

For several decades, statins have been the go-to drug for lowering cholesterol. They’re proven effective for a great many people. But for those who can’t tolerate the side effects or don’t have success with statins, there’s a promising new type of drug.

Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors are the next generation of medications designed to lower high cholesterol.

PCSK9 is a protein that controls how many LDL receptors you have. Certain genetic mutations of the PCSK9 gene result in fewer LDL receptors. These receptors are needed to regulate how much LDL gets into your blood. The more receptors you have, the better your liver can control LDL.

PCSK9 inhibitors target this protein so you have more LDL receptors. As a result, your liver processes LDL more efficiently.

In July of 2015, the U.S. Food and Drug Administration (FDA) approved the use of a PCSK9 inhibitor called alirocumab (Praluent) to treat HeFH. Alirocumab is taken by injection every two weeks. Side effects may include itching and swelling at the injection site.

In August of 2015, the FDA approved a second PCSK9 inhibitor to treat HeFH called evolocumab (Repatha). This injectable drug is taken every two to four weeks. Side effects may include upper respiratory tract infection and injection site irritation.

You can take PCSK9 inhibitors along with a statin.

What’s on the horizon?

The two new PCSK9 inhibitors are just the first wave for this new treatment. A third drug, Bococizumab, is currently in development. The medication will be delivered in a pre-filled pen. It’s not yet approved for general use, but clinical trials are underway.

These are exciting times in the world of genetic research. To study new treatments, researchers turn to people with familial hypercholesterolemia to participate in clinical trials.

Living with familial hypercholesterolemia

HeFH is not your fault and it couldn’t have been prevented.

It requires a lifelong commitment to cholesterol management. Why is this so important? Because if you have hypercholesterolemia, your risk of heart disease is 20 times greater than it is for people who don’t.

Without treatment, you’re at high risk for heart attack and stroke.

By working with your doctor, you can find the best therapy to keep your LDL in check. With the right treatment plan and a healthy lifestyle, you can significantly lower the risk of heart disease.

If you have hypercholesterolemia, that means others in your family do, too. You can encourage and support one another when it comes to diet, exercise, and not smoking.