Diagnosis
A detailed family history is an important key to diagnosing familial hypercholesterolemia. Healthcare professionals will be interested to know if your siblings, parents, aunts, uncles or grandparents ever had high cholesterol levels or heart disease, especially during childhood.
During the physical exam, your healthcare team will usually check for cholesterol deposits that may occur in the skin around the hands, knees, elbows and eyes. Tendons in the heel and hand may be thickened, and a gray or white ring may develop around the iris of the eye.
Cholesterol tests
Your healthcare team will likely order blood tests to check your cholesterol levels. The National Heart, Lung, and Blood Institute recommends that a person's first cholesterol screening should occur between the ages of 9 and 11 and be repeated every five years after that. Earlier or more-frequent screenings may be suggested for families with a history of childhood heart disease.
In the United States, cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood. In Canada and many European countries, cholesterol levels are measured in millimoles per liter (mmol/L).
Adults who have familial hypercholesterolemia usually have LDL cholesterol levels over 190 mg/dL (4.9 mmol/L) or have cholesterol levels that stay high even when on cholesterol-lowering treatments. Children who have the condition often have LDL cholesterol levels over 160 mg/dL (4.1 mmol/L). In more serious cases, LDL cholesterol levels can be over 500 mg/dL (13 mmol/L).
LDL cholesterol also is known as the "bad" cholesterol because it can build up in the walls of the arteries, making them hard and narrow. This can increase the risk of heart attacks.
Genetic testing
A genetic test can confirm familial hypercholesterolemia, but it's not always necessary. However, a genetic test can help determine whether other family members also may be at risk.
If one parent has familial hypercholesterolemia, each child has a 50% chance of inheriting it. Inheriting the altered gene from both parents can result in a rare and more serious form of the disease.
If you are diagnosed with familial hypercholesterolemia, healthcare professionals usually recommend that your first-degree relatives — such as siblings, parents and children — be checked for the condition. This allows for treatment to begin early, if needed.
Treatment
Familial hypercholesterolemia treatment focuses on reducing the extremely high levels of LDL cholesterol, also called the "bad" cholesterol. This helps lower the risk of heart attack and death.
Medications
Most people with familial hypercholesteremia need to take more than one medicine to control their LDL cholesterol levels. Options include:
- Statins. These medicines block a substance the liver needs to make cholesterol. Examples include atorvastatin (Lipitor), fluvastatin (Lescol XL), lovastatin, pitavastatin (Livalo), pravastatin, rosuvastatin (Crestor) and simvastatin (Zocor).
- Ezetimibe (Zetia). This medicine limits the absorption of cholesterol contained in the food you eat. If statins don't reduce cholesterol enough, healthcare professionals often suggest adding ezetimibe.
- PCSK9 inhibitors. These newer medicines — alirocumab (Praluent), evolocumab (Repatha) and inclisiran (Leqvio) — help the liver absorb more LDL cholesterol, which lowers the amount of cholesterol circulating in the blood. They are injected under the skin every few weeks or months and are very expensive.
- Bempedoic acid (Nexletol). This newer oral medicine reduces the production of LDL cholesterol by the liver. It is taken in a fixed daily dose and has been shown to be well tolerated.
Other treatments
People with more-serious familial hypercholesterolemia also may need to periodically have a procedure that filters the excess cholesterol from their blood. Some may need liver transplants.
Clinical trials
Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.
Self care
Healthy-lifestyle habits also can help reduce the risk of heart disease, and some may lower your cholesterol:
- Lose extra pounds. Losing weight can help lower cholesterol.
- Eat a heart-healthy diet. Focus on plant-based foods, including fruits, vegetables and whole grains. Limit saturated fats and trans fats.
- Exercise regularly. Aim for at least 30 minutes of moderate-intensity exercise five times a week.
- Don't smoke. If you smoke, find a way to quit.
Preparing for your appointment
You might start by talking to your family healthcare professional. Your healthcare professional may refer you to a specialist in heart disease, called a cardiologist.
What you can do
You may want to write a list that includes:
- Details about your symptoms.
- Other medical conditions you've had.
- All the medicines, vitamins and supplements you take, including doses.
- Your family's medical history, including if your siblings, parents, aunts, uncles or grandparents ever had high cholesterol levels or heart disease, especially during childhood.
- Questions you want to ask the care team.
What to expect from your doctor
Your healthcare professional is likely to ask you questions, such as:
- Did your close relatives ever have high cholesterol levels or heart disease?
- When was your last cholesterol test? What were the results?
- What's your diet like?
- How much exercise do you get?
- How much alcohol do you drink?
- Do you smoke? Are you or were you around other smokers?
