Familial Hypercholesterolemia: Definition, Causes, Symptoms, Diagnosis and Treatment

It is a disease that is born. The person can start to develop high cholesterol when he is a child.

It is a serious condition, and without treatment, men with homozygous familial hypercholesterolemia can get heart disease by age 40, women by age 50.

Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have an increased risk of heart disease and an increased risk of early heart attack .

The gene that causes familial hypercholesterolemia is inherited. The condition is present from birth, treatments that include medications and healthy lifestyle behaviors can help reduce the risks.

Familial homozygous hypercholesterolemia makes it more difficult for your body to eliminate “bad” LDL cholesterol from the blood. The disease increases the chances of having a heart attack at a young age, but drugs and other treatments can lower your risk.

Cholesterol is something waxy that is in your cells. The job of LDL is to carry cholesterol around your body in the bloodstream.

When you have high levels of LDL, cholesterol builds up in your arteries, the blood vessels that supply oxygen to your heart. Cholesterol can eventually block them and cut off the flow of blood and oxygen to your heart, causing a heart attack.

There is no cure, so you will have to take medications and follow a heart-healthy diet throughout your life. Your doctor may need a little “trial and error” until you find the right combination of medications to control your high cholesterol.

If drugs and diet do not help, there is another treatment that draws blood from your body, removes cholesterol and then returns your blood.

For some people, this treatment will not keep cholesterol under control yet. If that is your case, you may need a liver transplant . It is a major surgery with a lot of recovery time, so it is important to approach family and friends to get the emotional support you need.


When she has homozygous familial hypercholesterolemia, she inherits two copies of a gene that is not working well, one from each of her parents.

Normally, the liver removes extra LDL cholesterol from the blood using particles called LDL receptors. These receptors bind to LDL cholesterol and play a key role in keeping your cholesterol levels under control.

When you have this disease, the defective gene prevents LDL receptors from working well. Your cholesterol levels rise.

You may hear the term heterozygous family hypercholesterolemia. This is a related disease. With that, you inherit the broken gene from only one of your parents. It is not as severe as the homozygous form.


High cholesterol is a common medical condition, but it is often the result of unhealthy lifestyle choices and, therefore, preventable and treatable.

With familial hypercholesterolemia, a person’s risk of high cholesterol is higher because a defect (mutation) in a gene changes the way the body processes cholesterol.

This mutation prevents the body from removing low-density lipoprotein (LDL) cholesterol, the “bad” cholesterol, from the blood. As a result, the plaques can cause your arteries to narrow and harden, increasing the risk of heart disease.

Genetic tests can reveal if you have this mutation.

These genetic mutations are transmitted from parents to children. To have the condition, children need to inherit an altered copy of a parent’s gene. Most people with familial hypercholesterolemia have an affected gene and a normal gene.

In rare cases, a person inherits an affected copy of both parents, which can lead to a more severe form of the disease.

The main sign that you have this condition is very high levels of total cholesterol and LDL cholesterol. For example, you can have a total cholesterol level of 600 points or more. In comparison, the American Heart Association recommends that the ideal number of total cholesterol be less than 200.

You may have yellow and waxy patches on the skin on the elbows, knees and buttocks. These are called xanthomas .

The yellowish eyelids called xanthelasmas can develop on your eyelids. In addition, you can get gray or white circles around your cornea, the clear front of the eye.

Some of the symptoms of heart disease you may have include:

  • Pain in the chest ( angina ).
  • Fast beats
  • Short of breath.


Your doctor will perform a physical exam and will also do some blood tests. To help make a diagnosis, he may ask you:

  • Have you noticed yellow spots on your skin?
  • Do you have any chest pain?
  • Have you ever noticed that you are short of breath?
  • Do your heartbeats seem fast?
  • Do your parents have high cholesterol?

Your doctor will monitor your cholesterol levels by taking a blood sample and sending it to a laboratory for testing.

You may have a blood test to look for the abnormal gene that causes this condition. Your doctor may also want to examine some of your close relatives to see if they have the disease.

Questions for your Doctor

  • Should I change my diet?
  • Are there medications that can help lower my cholesterol?
  • How do you check if my treatment is working?
  • If diet and drugs do not reduce my cholesterol, are there other treatments that can help?
  • Will my children inherit my condition?


The goal is to reduce LDL cholesterol levels and the risk of heart disease. Your doctor will probably recommend a diet low in saturated fat, cholesterol and sugar.

You may need to try different combinations of medications and treatments until you find one that works best for you.

Because homozygous familial hypercholesterolemia raises your cholesterol to extremely high levels, your doctor may start with high doses of statins. Statins work by preventing your liver from producing cholesterol.

Changes in lifestyle, such as exercising and eating a healthy diet low in fat, are the first line of defense against high cholesterol. Specific recommendations include:

  • Reduce the amount of saturated fat in your diet to less than 30 percent of your daily calories.
  • Consume 10 to 20 grams of soluble fiber per day. Good sources include oats, peas, beans, apples, citrus fruits and carrots.
  • Increasing physical activity
  • Maintain a healthy body weight

With familial hypercholesterolemia, your doctor may also recommend taking medications to help lower your LDL cholesterol levels.

The drug or specific medications depend on several factors, including your risk factors, your age, your current health and possible side effects.

Your doctor may also try combining statins with other drugs that reduce the amount of cholesterol that enters your body from the food you eat. Ezetimibe (Zetia) is one of these medications.

Statins can also be combined with medications that help reduce the amount of cholesterol that moves through your blood. Some examples are Colestid, Prevalite and Welchol.

Two other drugs have been approved for people with homozygous familial hypercholesterolemia: lomitapide (Juxtapid) and mipomersen (Kynamro). You receive Kynamro as an injection once a week. Juxtapid comes in a capsule that you can swallow.

These medications lower LDL cholesterol and are intended to be used along with a low-fat diet and other medications that lower cholesterol.

Common drug options include:

Statins:  Statins, one of the most commonly prescribed cholesterol-lowering drugs, block a substance your liver needs to make cholesterol.

This causes your liver to remove cholesterol from your blood. Statins can also help your body reabsorb cholesterol from deposits accumulated in the walls of arteries, which could reverse coronary artery disease.

Las opciones incluyen atorvastatin (Lipitor), fluvastatin (Lescol), lovastatin (Altoprev), pitavastatin (Livalo), pravastatin (Pravachol), rosuvastatin (Crestor) y simvastatin (Zocor).

Bile acid binding resins: Your liver uses cholesterol to make bile acids, a substance necessary for digestion.

The medications cholestyramine (Prevalite), colesevelam (Welchol) and colestipol (Colestid) lower cholesterol indirectly by binding to bile acids.

This causes the liver to use excess cholesterol to produce more bile acids, which reduces the level of cholesterol in the blood.

Cholesterol Absorption Inhibitors: Your small intestine absorbs cholesterol from your diet and releases it into the bloodstream.

The drug ezetimibe (Zetia) helps reduce blood cholesterol by limiting the absorption of cholesterol in the diet. Zetia can be used in combination with any of the medications with statins.

Combination of cholesterol absorption inhibitor and statins: The combination drug ezetimibe-simvastatin (Vytorin) decreases the absorption of dietary cholesterol in the small intestine and the production of cholesterol in the liver.

It is not known if Vytorin is more effective in reducing the risk of heart disease than if you take simvastatin on your own.

Injectable medications : A new class of medications can help the liver absorb more LDL cholesterol, which reduces the amount of cholesterol circulating in your blood.

Alirocumab (Praluent) and evolocumab (Repatha) were recently approved for people who have a genetic condition that causes very high levels of LDL.

These medications can also be used for people who have had heart attacks or strokes and who need an additional drop in their LDL levels. These injectable medications are given at home once or twice a month.

If the different drug combinations are not doing the job, your doctor may ask you to try a treatment called apheresis. Eliminates cholesterol from your blood. It’s a bit like dialysis , the treatment that is used for kidney disease.

You go to a clinic or hospital where some of your blood is drawn through a tube called a catheter. LDL cholesterol is removed from your blood before it is returned to your body. The procedure takes several hours and you should do it regularly.

Sometimes, none of the treatments works. In that case, you may need a liver transplant. The new liver will have normal LDL receptors that will eliminate bad cholesterol from the blood.

Your doctor will put you on a waiting list for a donor liver. A liver transplant is a major surgery, and it could take 6 months to a year before you can return to your normal lifestyle. After the transplant, you should take medications that prevent your body from rejecting the new liver.

If you are considering a liver transplant, you probably need to get emotional support from family and friends. Support groups can also help by putting you in touch with people who are also receiving a transplant.

Ask your doctor about educational workshops that can help explain what to expect before and after a transplant.

Drugs for High Triglycerides

If you also have high triglycerides, your doctor may prescribe:

Fibrates : the drugs fenofibrate (Tricor) and gemfibrozil (Lopid) reduce triglycerides by reducing the production of very low density lipoprotein (VLDL) cholesterol from the liver and by accelerating the elimination of triglycerides from the blood. VLDL cholesterol contains mainly triglycerides.

Niacin : Niacin (Niaspan) decreases triglycerides by limiting your liver’s ability to produce LDL and VLDL cholesterol. But niacin generally does not provide any additional benefit other than the use of statins alone.

Niacin has also been linked to liver damage and stroke, so most doctors now recommend it only for people who can not take statins.

Omega-3 fatty acid supplements: Omega-3 fatty acid supplements can help reduce your triglycerides.

They are available by prescription or without a prescription. If you choose to take over-the-counter supplements, first get authorization from your doctor. Omega-3 fatty acid supplements may affect other medications you are taking.

Tolerance Varies

The tolerance of medications varies from person to person. The reported side effects are muscle aches, stomach pain, constipation, nausea and diarrhea.

If you decide to take medications to lower cholesterol, your doctor may recommend liver function tests to monitor the effect of the medication on your liver.

Treatment of Children and Cholesterol

Diet and exercise are the best initial treatment for children 2 years and older who have high cholesterol or who are obese. Children 10 years old and older can receive cholesterol-lowering medications, such as statins, if they have extremely high cholesterol levels.

Clinical Trials

Explore Mayo Clinic studies that test new treatments, interventions and tests as a means to prevent, detect, treat or control this disease.

Taking care of yourself

Practice smart lifestyle habits to reduce your risk of heart disease. Eat a diet that is primarily fruits and vegetables, whole grains, nuts, legumes, seafood, lean poultry and low-fat dairy products.

Also, keep fat in your diet at 30% or less of your daily calories. For example, if you eat 2,000 calories a day, you should not eat more than 65 grams of fat per day. Check the labels on the food to see how much fat is in the food you eat.

Try to avoid or limit sources of saturated fat and cholesterol, such as:

  • Red meats
  • Butter.
  • Whole milk.
  • Coconut and palm oils.
  • Egg yolks

Try exercising every day, which will also help you control your cholesterol levels.

What to expect

After you have been diagnosed, you will work closely with a cholesterol specialist called a lipidologist.

Although your doctor tries to find the treatment that works best, you may need to make regular visits to get blood tests and monitor your cholesterol levels.

It is important to be patient and take the time to get the treatment plan that is right for you. Sometimes, your doctor may have to try several different things before your high cholesterol is controlled.

You will need to manage your condition throughout your life. Be sure to keep up with medications prescribed by your doctor and follow a healthy diet.

Sometimes, the treatments do not work and the risk of heart disease remains high. Ask your doctor about joining a clinical trial. These trials test new drugs to see if they are safe and if they work.

They are often a way for people to try new medications that are not available to everyone.

Make sure you have a support network that can give you an emotional boost when you need it. You can also join a support group to get ideas and help from other people who know what is happening.