Understanding Familial Hypercholesterolemia & How It Affects You

Familial hypercholesterolemia is a condition that affects the manner in which your body processes cholesterol. People who have familial hypercholesterolemia are at a higher risk for developing cardiovascular diseases and also of having an early heart attack. Familial hypercholesterolemia is a genetic medical condition and is present right from birth. Treatment for familial hypercholesterolemia includes medications and modification of lifestyle to include healthy behaviors and a healthy diet. Let’s take a look and try to understand familial hypercholesterolemia and how it affects you.

What is Familial Hypercholesterolemia?

Familial hypercholesterolemia (FH) is a genetic medical condition that affects your cholesterol levels from birth itself. Familial hypercholesterolemia is also referred to as type 2 hyperlipoproteinemia. Familial hypercholesterolemia causes you to have high levels of LDL or low-density lipoprotein cholesterol. LDL is the bad type of cholesterol that increases the risk of cardiovascular disease and other heart-related problems. High levels of LDL cholesterol increase the level of total cholesterol as well.

Cholesterol is a waxy and fatty substance found in all the cells. Cholesterol can be dangerous when it starts accumulating and building upon the arterial walls. High levels of cholesterol is a cause for atherosclerosis and also for increasing the risk of stroke and heart attack.

Familial hypercholesterolemia is the most commonly occurring type of inherited high cholesterol condition and it is known to affect around 1 out of 500 people. Many studies have shown that in certain European populations, the occurrence of Familial Hypercholesterolemia can even be as high as 1 in every 250 people.

Familial hypercholesterolemia is usually more severe than the condition of non-genetic hypercholesterolemia. People who have familial hypercholesterolemia are likely to have higher cholesterol levels than those who have non-genetic hypercholesterolemia, and people with familial hypercholesterolemia also have a much higher risk of developing heart disease at a relatively young age.

What are the Symptoms of Familial Hypercholesterolemia?

You are unlikely to know whether you have high cholesterol levels or not because high cholesterol has no symptoms. By the time you get diagnosed with high cholesterol, the damage is already done inside. Some of the signs and symptoms of familial hypercholesterolemia include:

  • Experiencing chest pain while doing some activity.
  • Cholesterol deposits above the eyelids, known as xanthelasma.
  • Xanthomas – these are fatty deposits that are usually found in tendons, on the buttocks, elbows, and knees
  • Gray-white cholesterol deposits visible around the corneas, a condition known as corneal arcus.

When a person with familial hypercholesterolemia has a blood test done, it reveals that their LDL cholesterol level or their total cholesterol levels are much above the recommended normal levels.

What are the Causes of Familial Hypercholesterolemia?

There are believed to be three known Familial Hypercholesterolemia genes that cause the condition of familial hypercholesterolemia. Each of these genes is located on a different chromosome and Familial Hypercholesterolemia usually results after a person inherits one or a pair of these FH genes. Researchers and medical experts believe that in some cases, a particular combination of genetic material is what causes Familial Hypercholesterolemia.

Who is at a Higher Risk for Familial Hypercholesterolemia?

Familial Hypercholesterolemia is more likely to occur in some racial and ethnic groups, especially Lebanese, the Dutch, French Canadian, and Finnish. Anyone who has a close family relation who has Familial Hypercholesterolemia is at a higher risk of developing it.

How is the Diagnosis of Familial Hypercholesterolemia Made?

The diagnosis of familial hypercholesterolemia begins with a physical exam. This helps the doctor identify any type of fatty lesions or deposits that might have developed due to the increased levels of lipoproteins in Familial Hypercholesterolemia. Your doctor will also take down your and your family’s personal and medical history.

Blood tests are also used to determine cholesterol levels. The results indicate whether you have high levels of LDL cholesterol and total cholesterol.

There are three major sets of standards for the diagnosis of Familial Hypercholesterolemia and these include:

  • the Simon Broome criteria
  • the Dutch Lipid Clinic Network criteria
  • the MEDPED criteria
  • If you follow the Simon Broome Criteria standard, then:
  • The total cholesterol level will be more than
  • 290 milligrams per deciliter (mg/dL) in adults
  • 260 mg/dL in children under 16 years

The LDL Cholesterol levels will be more than:

  • 190 mg/dL in adults
  • 155 mg/dL in children

When you follow the Dutch Lipid Clinic Network standard, it gives a score to levels of high cholesterol that has LDL levels greater than 155 mg/dL.

The MEDPED standard provides the cutoff levels for total cholesterol and LDL cholesterol based on age and family history.

Apart from all this, your doctor will also be testing your triglyceride levels through a blood test. People having Familial Hypercholesterolemia tend to have normal levels of triglycerides that are below 150 mg/dL.

If your doctor is aware that someone in your family is affected by heart disease, then this serves as an important step in determining your individual risk of having Familial Hypercholesterolemia.

Other blood tests that may be prescribed for diagnosis of Familial Hypercholesterolemia include: lipid tests and specialized cholesterol tests, along with certain genetic tests to find out if you carry any of the known defective genes that are known to cause Familial Hypercholesterolemia. Identifying familial hypercholesterolemia with the help of genetic testing is allowed for early testing. Genetic testing has reduced the number of deaths occurring due to heart disease at a young age and has also helped in identifying more family members who are at risk of having familial hypercholesterolemia.

What are the Complications of Familial Hypercholesterolemia?

Some of the possible complications of familial hypercholesterolemia are:

  • Severe heart disease.
  • A heart attack at an early age.
  • A stroke.
  • Long term atherosclerosis.
  • Death caused by heart disease at a young age.

What is the Treatment for Familial Hypercholesterolemia?

Familial hypercholesterolemia is treated with dietary changes, similar to how ordinary cases of high cholesterol level are treated. However, unlike the normal cases of high cholesterol, familial hypercholesterolemia is also treated with medications. A combination of medication and dietary changes are necessary to lower the cholesterol levels successfully and at the same time, delay the onset of heart attack, heart disease, and other complications of familial hypercholesterolemia.

Your doctor will advise you to change your diet and also increase your exercise activity. Quitting smoking is also an important part of the treatment plan of familial hypercholesterolemia.

Lifestyle Changes for Treating Familial Hypercholesterolemia

When you have been diagnosed with familial hypercholesterolemia, your doctor will recommend that you have a diet that centers on lowering the intake of unhealthy fats and other unhealthy foods. You will be encouraged to:

  • Decrease the intake of pork and red meat
  • Increase the intake of lean proteins, such as chicken, fish, and soy
  • Start having low-fat dairy products instead of full-fat dairy products
  • Use canola oil or olive oil instead of butter or lard
  • Limit your intake of sweetened beverages and soda
  • Include more vegetables and fruits, and nuts into your daily diet
  • Limit the intake of alcohol to no more than two drinks a day for men and one drink a day for women

It is also important that you maintain a healthy weight by incorporating exercise and a healthy diet into your daily routine. A healthy weight will also help lower your cholesterol levels. Getting a good night’s sleep is also important for your overall health along with treating and managing familial hypercholesterolemia.

Medications for Treating Familial Hypercholesterolemia

Children suffering from familial hypercholesterolemia can begin taking medications from as early as 8 years old. Statins are the most commonly prescribed drugs for reducing the levels of LDL cholesterol. Some statins that are prescribed to treat familial hypercholesterolemia include: Fluvastatin (Lescol), simvastatin (Zocor), atorvastatin (Lipitor), lovastatin (Mevacor, Altoprev) and rosuvastatin (Crestor).

Apart from statins, other medications that are used for lowering cholesterol levels in familial hypercholesterolemia are: Fibrates, Ezetimibe (Zetia), Bile acid-sequestrating resins, Nicotinic acid,

What is the Prognosis of Familial Hypercholesterolemia?

The prognosis of familial hypercholesterolemia depends on whether or not you are carrying out the lifestyle changes as advised by your doctor and whether you are taking your prescribed medications properly or not. If you diligently follow these recommendations, then you can lower the risk of heart disease significantly and also prevent a heart attack, which makes the prognosis of familial hypercholesterolemia good. Starting the right treatment after an early diagnosis of familial hypercholesterolemia can help a person lead a normal life with a normal life expectancy.


Since the condition of familial hypercholesterolemia is genetic, the best chance you have at preventing familial hypercholesterolemia is to seek genetic counseling before you conceive. If a genetic counselor is able to identify you or your partner as being at risk for the familial hypercholesterolemia gene mutations, then you will be aware of the risk posed to your future children. Early diagnosis and treatment of your cholesterol levels is the best recommendation for those who already have familial hypercholesterolemia.

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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:May 1, 2019

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