Familial hypercholesterolemia (FH) is an inherited condition. It causes high levels of total cholesterol. It also increases levels of low density lipoprotein (LDL), or “bad” cholesterol. These high cholesterol levels increase a person’s risk for developing heart disease.


The liver removes LDL cholesterol from the blood. It does this by making receptors that attach to LDL cholesterol. With FH, there are problems with the receptors. There may be too few receptors, or they may not work as they should.

The Liver and Other Organs

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These problems are caused by a gene mutation. FH may be inherited from one or both parents.

If inherited from both parents, the condition is severe. Heart disease and heart attacks can occur at a very young age. People with a severe form of this condition usually die at a young age (eg, in their 20s).

Risk Factors

If one of your parents has the gene mutation for FH, you are at higher risk for the condition. If both your parents have the gene mutation, you have an even higher chance of having the condition.


FH increases the risk of developing atherosclerosis at a young age. This is the hardening of arteries from plaque build-up. This can lead to:

The build-up of plaque can also cause:

  • Thick and painful tendons (especially the Achilles’ tendon)
  • Xanthomas—fatty deposits beneath the skin (most commonly found on the elbows, joints, tendons, knees, hands, feet, and buttocks)
  • Xanthelasmas—fatty deposits on the eyelids
  • Eye problems—fatty deposits on the cornea


The doctor will:

  • Ask about your symptoms and medical history, as well as your family history
  • Do a physical exam and look for fatty deposits on the skin and eyes
  • Do blood tests to check cholesterol levels
    • Total cholesterol may be over 300 mg/dl (5.1 mmol/L)*
    • LDL cholesterol may be over 220 mg/dl (12.2 mmol/L)*
  • Your doctor may also do these tests:

*mg/dl = milligrams per deciliter; mmol/L = millimole per liter


Once the diagnosis is made, you or your child will need life-long treatment. The main treatment goal is to lower cholesterol levels. This will reduce the risk of heart disease. The doctor may recommend that you or your child work with a lipid specialist.

Treatment for FH Inherited From One Parent

If you or your child has FH from one parent, treatment typically includes:

Lifestyle Changes


Because FH is an inherited condition, diet and exercise will not be enough to lower high cholesterol levels. In most cases, cholesterol-lowering medicines called statins are prescribed for both children and adults. Statins may be able to reduce the risk of heart disease and death. In some cases, other cholesterol-lowering medicines are also prescribed, like ezetimibe.

Treatment for FH Inherited From Both Parents

If you or your child has inherited the gene mutation from both parents, treatment may also include:

  • Apheresis—a process that uses a special machine to filter LDL from the blood
  • Liver transplant—may be done in severe cases where the condition is getting worse and treatment has been unsuccessful


FH is an inherited condition. It cannot be prevented. The sooner treatment is started, the better the outcome.