About Hypercholesterolemia

Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths known as tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19. The defect makes the body unable to remove low density lipoprotein (LDL, or "bad") cholesterol from the blood. This results in high levels of LDL in the blood. High levels of LDL cholesterol make you more likely to have narrowing of the arteries from atherosclerosis at an early age. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease.

Symptoms that may occur include:

  • 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 (angina) or other signs of coronary artery disease; may be present at a young age
  • Cramping of one or both 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

The goal of treatment is to reduce the risk of atherosclerotic heart disease. People who get only one copy of the defective gene from their parents may do well with diet changes and statin drugs. The first step is to change what you eat. Most of the time, the doctor will recommends to try this for several months before prescribing medicines. Diet changes include lowering the amount of fat you eat so that it is less than 30% of your total calories. If one is overweight, losing weight is very helpful.

Here are some ways to cut saturated fat out of diet:

  • Eat less beef, chicken, pork, and lamb
  • Replace full-fat dairy products with low-fat products
  • Eliminate trans fats

One can lower the amount of cholesterol by eliminating egg yolks and organ meats such as liver.

Talking to a dietician who can give advice about changing eating habits, weight loss and regular exercise may also help lower your cholesterol levels.

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