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Pure hypercholesterolemia: Causes, symptoms, and treatment

Publisher/Author : Pacific Cross

This post is also available in: Tiếng Việt (Vietnamese)

Pure hypercholesterolemia

Pure hypercholesterolemia or familial hypercholesterolemia is a condition where a person has high cholesterol levels due to a genetic abnormality.

How common is Pure hypercholesterolemia?

Pure hypercholesterolemia affects about 1 in 500 people in most countries. It occurs more frequently in certain populations, including Afrikaners in South Africa, French Canadians, Lebanese, and Finns. Please discuss with your doctor for further information.


What are the symptoms of Pure hypercholesterolemia?

Although symptoms rarely occur, some people who have pure hypercholesterolemia may experience:

  • Chest pain
  • Small bumps on the skin, usually on the hands, elbows, knees, or around the eyes
  • Xanthomas, which are waxy cholesterol deposits in the skin or tendons
  • Small, yellow deposits of cholesterol that build up under the eyes or around the eyelids

When a person receives mutated genes for pure hypercholesterolemia from both parents, they are more likely to develop xanthomas at an early age. Sometimes they will even have the xanthomas in infancy.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Pure hypercholesterolemia?

Pure hypercholesterolemia is passed down to a person by their parents because of a genetic mutation on chromosome 19.

The condition affects a person’s liver. The liver is responsible for producing cholesterol, which helps create healthy cell walls. However, when a person has pure hypercholesterolemia, the liver is unable to recycle cholesterol and regulate cholesterol levels. As a result, the amount of cholesterol builds up in the body.

Two forms of the condition exist: heterozygous familial hypercholesterolemia (HeFH) and homozygous familial hypercholesterolemia (HoFH).

The HeFH condition occurs when a person inherits pure hypercholesterolemia from one parent.

The HoFH condition occurs when a person inherits pure hypercholesterolemia from both parents. This form of the condition is very rare and occurs in only 1 in 160,000-1 million people in the world, according to the Familial Hypercholesterolemia Foundation. The HoFH form of the condition often results in more severe symptoms than the HeFH form.

Risk factors

What increases my risk for Pure hypercholesterolemia?

The major risk factor for developing pure hypercholesterolemia is having one or both parents with a history of the condition.

If a person has pure hypercholesterolemia or has a parent with the condition, it’s important they have their children’s cholesterol levels tested. This testing should occur when the children are between the ages of 2 and10 years.

If a parent has pure hypercholesterolemia, there is a 50 percent chance they will pass the condition on to their child. Genetic counselors can help a person more closely examine the chances of passing the condition on to their child.

People of certain ethnicities are at a higher risk of experiencing the condition. These include:

  • Ashkenazi Jews
  • French Canadians
  • Lebanese
  • South African Afrikaners

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Pure hypercholesterolemia diagnosed?

Doctors will diagnose the condition by finding out about the person’s symptoms and by taking a family history. A doctor may note any cholesterol deposits that have built up in the body, especially on or around the eyes.

A doctor will probably order blood tests to find out what a person’s total cholesterol levels are. Results that show total cholesterol levels higher than 300 mg/dL or higher than 250 mg/dL in children, will be cause for concern.

Genetic testing can reveal the genetic mutation on chromosome 19 that would indicate pure hypercholesterolemia.

A doctor may also order tests to determine the overall impact that pure hypercholesterolemia has had on a person’s health. This could include a cardiac stress test or an echocardiogram.

How is Pure hypercholesterolemia treated?

Treatments for pure hypercholesterolemia often depend upon how severe the cholesterol levels and symptoms are. Almost all people with the condition will need to take a prescription medication to reduce overall cholesterol levels.

The most common medications are called “statins.” An example is atorvastatin.

Sometimes doctors will prescribe additional medications known to lower cholesterol, such as:

  • Bile acid sequestrant resins
  • Ezetimibe
  • Nicotinic acid (niacin)
  • Gemfibrozil
  • Fenofibrate

People with severely high cholesterol levels may also need to undergo a procedure called LDL-apheresis. This process involves the removal of excess cholesterol from the blood. It is performed on a weekly or twice-weekly basis.

In very rare and extreme cases, a person may require a liver transplant.

Doctors will often recommend that a person with pure hypercholesterolemia take low-dose aspirin in an attempt to prevent blood clotting and reduce the risk for stroke and coronary artery disease.

Researchers are currently conducting clinical trials and studies regarding medications in a new class of drugs called proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors.

The amount of LDL in the body is normally controlled by specialist receptors. When a person has hypercholesterolemia, these receptors do not function properly. These medications help these receptors to continue working and as a result, the body is better able to process LDL cholesterol.

The U.S. Food and Drug Administration (FDA) have approved evolocumab (Repatha), a PCSK9 medication to treat patients with familial hypercholesterolemia where the genetic mutation was passed down by one parent. The medication isn’t considered a first-line treatment, however.

Doctors will typically only prescribe the evolocumab if a person isn’t responding to statin therapy, according to the American Pharmacists Association.

The drug is administered anywhere from one to three times a month. The drug is very expensive, however, costing an estimated $14,100 on an annual basis for a person who receives an injection of the medication every 2 weeks.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Pure hypercholesterolemia?

The following lifestyles and home remedies might help you cope with Pure hypercholesterolemia:

  • Controlling other risk factors known for making cholesterol levels worse. Examples include managing high blood pressure and diabetes.
  • Eating at least 10-20 grams of soluble fiber a day.
  • Eating a healthy diet low in saturated and trans fats, usually by limiting fats to no more than 30 percent of a person’s total daily calories.
  • Taking as much exercise as possible.
  • Limiting the amount of high-fat foods in the diet. These include butter, whole milk, high-fat cheeses, and high-fat beef, pork, and lamb.
  • Stopping smoking is one of the most important lifestyle changes a person can make.

If you have any questions, please consult with your doctor to better understand the best solution for you. Hello Health Group does not provide medical advice, diagnosis or treatment.

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