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Familial Hypercholesterolemia

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Last updated November 24, 2021

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What is familial hypercholesterolemia?

Familial hypercholesterolemia is an inherited disease that causes very high cholesterol. People are born with it and it can cause a heart attack at an early age.

The genetic mutation makes your body unable to remove low density lipoprotein (LDL), the bad cholesterol, from your blood. That leads to plaque build up in your arteries.


Symptoms

You may have no symptoms in the early years. As it progresses, you may have the following symptoms:

  • Fatty skin deposits called xanthomas over parts of the hands, elbows, knees, ankles, and around the cornea of the eye
  • Cholesterol deposits in the eyelids (xanthelasmas)
  • Chest pain
  • Cramping in your calves when walking
  • Sores on the toes that do not heal
  • Sudden stroke-like symptoms such as trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance

Treatment

If you have a family history of very high cholesterol, you should get your cholesterol tested. Getting diagnosed early is a critical step in controlling your cholesterol levels and preventing life-threatening illness.

Seek immediate medical care if you are experiencing chest pain or other signs of a heart attack.

Treatment usually includes taking medications that lower your LDL cholesterol or enhance your body’s ability to clear LDL from your blood.

Your doctor will also recommend a heart healthy diet (low in saturated fat and cholesterol), regular exercise, and to not smoke.

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