Inherited High Cholesterol and Heart Disease: What to Ask Your Doctor

Familial hypercholesterolemia (FH) affects about 1 in 250Trusted Source people. It’s different from other kinds of high cholesterol because it’s passed down through families, due to a specific gene mutation.

If you live with FH, your body doesn’t get rid of low-density lipoprotein (LDL) cholesterol in the same way as someone without FH.

Even if you have FH, you can take steps to manage your health, reduce your risk of cardiac events, and protect your overall well-being. One important step to take is seeing a doctor.

Read on to find resources to help you get started, as well as FH-related topics for you and your doctor to discuss.

How should I prepare to talk with my doctor about inherited high cholesterol?

Arrive at your appointment with information about your medical and family history. It’s even better if you have recent numbers for your:

– total cholesterol
– LDL cholesterol
– high-density lipoprotein (HDL) cholesterol
– systolic/diastolic blood pressure

Should I be seeing a specialist for FH?

Since FH is a genetic condition, a specialist may be the best kind of doctor for you. FH is diagnosed with a genetic test that you may not be able to get through your family doctor.

There are other signs of FH, according to the FH Foundation, that your doctor may notice. These include:

a family history of heart disease early in life
high levels of LDL cholesterol that don’t go away with diet and exercise changes
cholesterol lumps or deposits on your knees, elbows, or knuckles
discoloration in or around your eyes

Once you know you have FH, a specialist can offer targeted treatment plans for your specific case.

FH puts individuals at an even higher risk of a cardiac event than the more common forms of high cholesterol — and a specialist can treat the condition with the diligence that it requires.

Your family doctor may refer you to a specialist. If they don’t have one in their network, the FH Foundation has a search tool to help you find a specialist near you.

How often do I need my cholesterol levels checked?

Although your cholesterol levels are important, they’re just one part of managing FH.

Your doctor should let you know how often you need to go into the office for tests. Ask your doctor:

when you should schedule these appointments
how you’ll get the results
what your cholesterol targets are

Home testing isn’t recommended for those with FH. Having your LDL cholesterol checked at a laboratory is important to get an accurate reading.

Depending on other levels of cholesterol in your body, such as your triglycerides, your doctor may feel it’s important to have your LDL cholesterol directly measured rather than calculated.

How do I know if my cholesterol level is high?

Based on blood tests, your doctor can tell you if your cholesterol is too high. This table might also help you to get an idea of whether your cholesterol is out of range, based on the recommended cholesterol levels by age.

The data in the chart comes from the 2018 report by the American College of Cardiology and American Heart Association Task Force on Clinical Practice Guidelines.

The values are in units of milligrams per deciliter (mg/dL) and are based on fasting levels — meaning, without eating or drinking for at least 8 hours prior.

For adults, an LDL cholesterol level of 190 mg/dL or higher is part of the diagnosis criteria for FH. So, it may not come as a surprise that this level is listed as “very high” on the chart below.

What foods should I be eating or avoiding?

With FH, it’s important to avoid eating foods that can cause cholesterol levels to rise. Try to stay away from foods that are high in fats, especially saturated and trans fats.

These “bad” fats are found in:

– meat
– dairy
– fast foods
– baked goods
– highly processed foods

The phrase “partially hydrogenated” on a food label means there are trans fats in the product.

Instead, try to eat fiber-rich foods, such as:

– vegetables
– grains
– beans
– fruits

The FH Foundation recommends eating more than 25 grams of fiber per day to lower the risk of heart disease. You can speak with your doctor or a dietician for specific food recommendations.

Where do I start with diet and lifestyle changes to manage FH?

FH is a lifelong condition. It’s a good idea to think of managing the condition in the long term with lifestyle changes you can maintain over time.

For example, experts at the Mayo Clinic recommend increasing activity and keeping a healthy body weight.

Eating a low fat, nutritious diet is also important. If you eat meat, choose leaner cuts and stick to small portion sizes of 3 ounces or fewer. However, plant-based diets are associated with lower cholesterol levels than those including meat.

So, fill up your plate with plenty of vegetables and whole grains. Replace butter with healthier plant-based oils, like sesame or olive.

What medications are available to me?

Your doctor or FH specialist will discuss specific medications that may be right for you. Because FH is genetic, most people will have a treatment plan that includes medications and lifestyle changes.

Medications prescribed for FH include:

Statins. High-potency statins, such as atorvastatin (Lipitor) and rosuvastatin (Crestor), help stop your liver from making cholesterol. They also increase expression of LDL receptors on the liver surface, which lowers circulating cholesterol.
Cholesterol absorption inhibitors. Ezetimibe (Zetia) helps prevent your body’s absorption of cholesterol and also increases LDL receptor expression to reduce circulating LDL.
PCSK9 inhibitors. Alirocumab (Praluent) and evolocumab (Repatha) help boost your body’s normal process of clearing LDL cholesterol from the blood. The medications target the enzyme PCSK9 (proprotein convertase subtilisin/kexin type 9 serine protease).
Adenosine triphosphate-citrate lyase inhibitors. Bempedoic acid (Nexletol) or combination pills of bempedoic acid and ezetimibe (Nexlizet) help stop cholesterol production in your liver.
Bile acid-binding resins. These include cholestyramine (Prevalite) and colestipol (Colestid). They take bile acids out of your liver so that it’ll use cholesterol to make replacement bile acids for digestion.

If you have high triglyceride levels in addition to high LDL levels from FH, your doctor may recommend additional medications.

The takeaway

FH puts people at higher risk of heart disease and cardiac events, such as stroke, than other forms of high cholesterol.

By working closely with your family doctor or a specialist, you can find a treatment plan to keep you healthy and your cholesterol numbers on track.

Talk with your doctor about what’s best for you and how to make lifestyle changes to meet your health goals.