Familial hypercholesterolemia

While common, familial hypercholesterolemia or genetic high cholesterol can often go undetected and lead to heart disease at an early age. Our cardiologists are specially trained on diagnosing and treating this condition for you and all your family members, so you can avoid serious health issues down the road. We’re here to help you protect your heart health – and peace of mind.

What is familial hypercholesterolemia?

Familial hypercholesterolemia is hereditary and a common genetic disorder caused by a gene mutation. Familial hypercholesterolemia (FH) is inherited as an autosomal dominant trait that's passed down. This means that you only need to inherit the abnormal gene from one parent to develop FH. You may have familial hypercholesterolemia if your cholesterol is high and low-density lipoprotein (LDL or the “bad” cholesterol) is over 190 mg/dL.

With familial hypercholesterolemia, your liver doesn’t remove excess LDL from your body as well as it should. If left untreated, you have 20 times the risk of developing coronary heart disease – and at a younger age. Familial hypercholesterolemia can lead to serious conditions like heart attack and stroke before age 50 or even much earlier.

Children and siblings of people with familial hypercholesterolemia have a 50% chance of having it, too. If you have FH, make sure your family members get screened for hypercholesterolemia.

The good news is that FH is treatable. And the sooner the better. Getting treated for FH as early as age 8 or 9 significantly reduces the chances of developing heart disease by age 30.

Symptoms of familial hypercholesterolemia

Most people with familial hypercholesterolemia don't know they even have it because usually there aren’t any symptoms. That’s why it’s so important to get regular checkups and talk with your doctor about getting your cholesterol tested.

The most common sign you may have FH is high cholesterol with an LDL number over 190 mg/dL.

Our specially trained experts can also identify other signs of FH. These include:

• Yellow discoloration around your eyes
• A white ring around the colored part of your eye
• Cholesterol deposits in the tendons of your hands, elbows and ankles

Diagnosing familial hypercholesterolemia

As with other conditions, you may look and feel healthy, but it’s always best to keep up with your regular doctor visits and screenings to catch any issues as early as possible.

To diagnose FH, we’ll begin with a thorough physical exam that includes a review of your family health history and a blood test to check your cholesterol levels. Your doctor will look for an LDL result of greater than 190 mg/dL, as well as other signs of FH. To confirm the diagnosis, we may do genetic testing, too.

Find out more about our heart and vascular testing and diagnosis.

Treatment for familial hypercholesterolemia

We believe in tailoring a familial hypercholesterolemia treatment plan just for you, one that protects your heart. Our specially trained cardiologists work with you to develop a comprehensive care plan to lower your cholesterol and LDL numbers and prevent heart disease.

Your personalized familial hypercholesterolemia treatment plan may include:

• Lifestyle changes such as eating a heart-healthy diet, exercising, maintaining a healthy weight, limiting alcohol and quitting smoking
• Medication if diet, exercise and other lifestyle changes aren’t able to control your cholesterol
• Our specialized Lipid Clinic, which offers an even higher level of expertise from board-certified lipid specialists who can explore other familial hypercholesterolemia treatment options with you. And with our same-day service and convenient access, you don’t have to wait for tests or results.