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Familial hypercholesterolemia is a gene mutation that affects a person’s ability to process cholesterol.

Cholesterol is generally affected by a person’s diet and their level of physical activity. While people can often prevent or keep their cholesterol levels from going through the roof, there are cases in which this condition is caused by a series of genetic factors. When this happens, it means that person suffers from familial hypercholesterolemia.

What is familial hypercholesterolemia?

Familial hypercholesterolemia is, in short, elevated cholesterol as a result of a gene mutation. This gene is normally inherited from parent to child, meaning that it’s present ever since you’re born.

The consequences of leaving familial hypercholesterolemia untreated are the same as with normal high cholesterol — an increased risk of suffering from a heart attack, as well as the probability of ending up with a heart disease.

The gene that causes this mutation prevents the body from eliminating cholesterol which can potentially build-up in the arteries. Also known as “bad cholesterol”, this can cause the walls of the arteries to get thicker and narrower, thus restricting blood flow and potentially causing a heart attack.

Familial hypercholesterolemia: Diagnosis and treatment

While cholesterol levels are traceable thanks to a blood test, familial hypercholesterolemia can be diagnosed with a genetic test, which reveals the presence of the gene inside the body.

The treatment for familial hypercholesterolemia follows pretty much the standard cholesterol treatment, with different dietary changes and requires physical activity.

While doctors don’t usually recommend medication for treating high cholesterol unless the levels are alarming, with familial hypercholesterolemia there will normally be a medication treatment as well. The purpose is to help lower cholesterol levels, but such medication is typically prescribed while taking into consideration a series of other factors, such as your current health status, your age, as well as other risk factors and potential side effects.

Medication for familial hypercholesterolemia

After carefully evaluating your family history and you current health condition, the doctor can prescribe any of the following types of medication:

  • Statins are cholesterol-lowering meds which are often prescribed by doctors. When the active substance in statins is at work, the liver can no longer produce extra cholesterol, which causes it to remove it from the blood. Statins can also work to reverse coronary art disease, by removing the cholesterol deposits formed on the artery walls.
  • The cholesterol found in your body is absorbed by the small intestine and then released in the bloodstream. By taking cholesterol absorption inhibitors, the absorption of dietary cholesterol will be limited.
  • Combination cholesterol absorption inhibitor and statin is a combination of the two drugs mentioned above, which fulfills the roles of each of the components.
  • By using cholesterol, the liver makes bile acids, which are needed for proper digestion. By taking meds such as bile-acid-binding resins, you are ingesting active ingredients that bind to bile acids. As a consequence, the liver uses whatever excess cholesterol is in your blood to make more bile acids, thus lowering your overall cholesterol levels.
  • Injectable medications have recently been approved by the FDA as a potential stimulator to help the liver absorb more bad cholesterol, thus preventing it from circulating in the bloodstream. This type of medication is designated to people who suffer from familial hypercholesterolemia, and can be administered twice per month at home.

Familial Hypercholesterolemia and triglycerides

Those who suffer from familial hypercholesterolemia may also have increased triglycerides levels. These represent a type of fat that’s found in the body, which is basically an excess of calories that your body doesn’t need and therefore converts into fat.

A high level of triglycerides can also be a reason for certain medical prescriptions. Some medications given to patients who have familial hypercholesterolemia and a high level of triglycerides are:

  • Niacin is a drug which works towards limiting your liver’s ability to make bad cholesterol. However, there have been cases when niacin caused stroke or liver damage, and is now prescribed in exception cases, only to patients who cannot take a statins-based treatment.
  • Omega-3 fatty acid supplements are also efficient in reducing triglyceride levels. While they are available in drug stores with medical prescriptions, talking to your doctor before taking them is advised, as they are known to interact with different types of medication.
  • Fibrates such as gemfibrozil or fenofibrate can work to reduce the level of very-low-density lipoprotein produced by your liver, but also helps speed up the triglyceride-removal process from the blood.

Familial hypercholesterolemia and children

Since familial hypercholesterolemia is a genetic factor that contributes to high cholesterol, children also have an increased risk of suffering from this condition. Naturally, parents have to pay close attention to the child’s diet and physical activities anyway, but this becomes increasingly more important if the child also has this gene mutation.

Children who have familial hypercholesterolemia will be required to consume less saturated fat, and have a diet based on low-fat dairy products. Maintaining a healthy weight is super-important, while also making sure that the child receives all the nutrients, vitamins and minerals required to grow into a healthy adult.

With minor exceptions, the diet of a child who has familial hypercholesterolemia should be rather similar to that of an adult with the same problem, making sure to avoid foods that are high in cholesterol, large sugar intakes, fast food and snacks, fizzy drinks. Instead, parents should opt for foods such as whole grains, cereal, fruit and vegetables, low-fat or skim milk, soups, stews, lean meat that’s baked or grilled instead of fried, fish, or legumes.


Familial hypercholesterolemia is a gene mutation that affects a person’s ability to process cholesterol. It’s a condition that can be inherited, and is typically passed on from parent to child. Much like regular high cholesterol problems, familial hypercholesterolemia can also be kept under control through diet, exercise, and medication.

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