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Familial Hypercholesterolaemia

familial hypercholesterolemia

Familial hypercholesterolaemia is a term applied to an inherited condition in which low-density (LDL) cholesterol (often referred to as bad cholesterol) is at a higher than normal level in the blood.

What causes familial hypercholesterolaemia?

Familial hypercholesterolaemia is caused by a defect in a gene which controls the way cholesterol is handled in the body. As a result of the defect, LDL cholesterol is not broken down properly and builds up in the bloodstream.

What are the features of familial hypercholesterolaemia

The most important feature is the development of heart disease at a young age. This is caused by plaques of atheroma developing within the walls of the coronary (heart) arteries. This can lead to a heart attack (myocardial infarction) as a young adult. You might also notice:

  • Xanthomas - fatty cholesterol-rich deposits in the skin, usually found around the elbows, knees, buttocks and tendons.
  • Xanthelasmas - fatty deposits in the eyelids.
  • Arcus senilis - a white ring around the cornea (the coloured part of the eye).
  • Obesity.

What are atheroma and cardiovascular diseases?

Patches of atheroma are like small fatty lumps that develop within the inside lining of arteries (blood vessels). Atheroma is also known as atherosclerosis and hardening of the arteries. Patches of atheroma are often called plaques of atheroma. Over months or years patches of atheroma can become larger and thicker. So, in time, a patch of atheroma can make an artery narrower. This can reduce the blood flow through the artery.  Sometimes a blood clot (thrombosis) forms over a patch of atheroma and completely blocks the blood flow. Depending on the artery affected, this can cause a heart attack, a stroke, or other serious problems.

How is familial hypercholesterolemia diagnosed?

  • You may be diagnosed by chance if you go for a health screening check or you may notice fatty deposits on the skin or around the eyes.
  • Another member of your family may be diagnosed with familial hypercholesterolaemia or have a heart attack before the age of 50, and you may be advised to have a check yourself.
  • You will be advised to have a blood test to check your cholesterol.

What are the aims of treatment?

You should be treated to stop symptoms and complications from developing when you are older - the most important of which is heart disease that may develop at an earlier age than usual.

What are the treatment options for familial hypercholesterolaemia?
Things you can do to help yourself include:

  • Eating healthily
  • Getting a reasonable amount of exercise.
  • Avoiding smoking.
  • Maintaining a normal weight.

You will be offered medication to help bring your cholesterol level down. The usual medicine to start with is a statin. The most common statin used is called simvastatin or atorvasatin. A newer statin called rosuvastatin is shown to have tremendous efficacy in young hypercholestremics.  If the level does not come down, another medicine called ezetimibe is sometimes added.

Affected children usually start statin medication in late childhood or early adolescence. Some children may need apheresis (a treatment which filters LDL cholesterol out of the blood). This is offered to those who have the greatest risk of developing problems. In particular, those with the rare homozygous form of familial hypercholesterolaemia.

What is the prognosis?

The outlook for people with heterozygous familial hypercholesterolaemia is usually good if you maintain a healthy lifestyle, have regular checks and take your medication without fail.


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