What is Familial Hypercholesterolemia?

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  • Written By: wiseGEEK Writer
  • Edited By: O. Wallace
  • Last Modified Date: 03 January 2019
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Familial hypercholesterolemia is a potentially life-threatening condition that is passed from parent to child and causes extremely high levels of total cholesterol and low-density lipoprotein cholesterol, often beginning when children are born. This is a genetically caused condition resulting from mutation of the 19th chromosome, and when present, it can be a strong predictor for very early heart attack. With low density lipoprotein (LDL) or “bad” cholesterol present in high amounts from birth, build up of plaque in the arteries begins very early, creating much greater chance for heart attack in people as young as 40.

The inheritance pattern creating the 19th chromosome defect and resulting in familial hypercholesterolemia is autosomal dominant. This means inheriting the gene for this condition from either parent will result in expression of the illness. If a parent has this condition, they have a 50% chance of passing it onto children, and that child would develop a heterozygous version of the disease.

When two parents have this condition, there is additional risk. Children who inherit two genes can have accelerated and graver versions of the illness, called homozygous familial hypercholesterolemia. The best way to consider whether this condition is possible is to look at family history to see if history of early heart attack exists. There are other symptoms, which can also suggest the disease.


Due to the excess cholesterol people may not only have high LDL blood levels, that are difficult to treat, but they can also have cholesterol build up in certain areas of the body. These include xanthomas, which are deposits on the skin that have fat or cholesterol in them. Cholesterol deposits on the eyes, called xanthelasmas, or on the cornea (corneal arcus) may occur too.

Under most circumstances, familial hypercholesterolemia is diagnosed when blood serum levels of cholesterol are taken and found to be very high. Unfortunately, when people don’t know their family history, significant damage to the body and arteries may occur prior to intervention. It makes sense if another family member has the condition to get tested, especially if that family member is a parent or a sibling.

There are several treatments for familial hypercholesterolemia. These include reducing fat intake to 30% of total diet, cutting out most saturated fats completely, and most doctors encourage weight loss and a good fitness regime. Medications to reduce blood cholesterol levels are usually given,

The more severe form of this condition may need interventions that aren’t necessary with the heterozygous form of the disease. Some people’s cholesterol levels can become so high that they require period filtering of the cholesterol from their bloodstream. The liver, which handles cholesterol, can become overwhelmed by extremely high amounts, and may go into failure. Sometimes people with “two-gene” or homozygous forms will need liver transplants, and they are already at great risk of heart attacks as early as their 30s.

In both types of the conditions, individuals will need careful monitoring of their cholesterol levels by doctors. Again, early diagnosis provides best chance of successfully controlling especially homozygous forms of the condition. Continued improvements in cholesterol treatment and research, offer hope to those with heterozygous familial hypercholesterolemia too.



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