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What is FH?

Familial Hypercholesterolaemia

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FH is a genetic disorder that can be diagnosed in children

FH is short for Familial Hypercholesterolaemia, sometimes spelt hypercholesterolemia. It is an inherited cholesterol disorder, runs in families and if acquired from one parent is called heterozygous or from both parents is the more serious form of homozygous FH.

Both forms lead to early age destructive cardiovascular disease.

A Genetic Disorder

For those with FH, lifestyle, including bad diet, no exercise and smoking, is not the cause, although each can still have a profound effect on the outcome of the disorder, particularly smoking.

The Science

Cholesterol, produced mainly in the liver, is a fatty substance that occurs naturally. While it plays a vital role, having too much cholesterol, particularly of the wrong type, in your blood can increase your risk of heart disease. Cholesterol is a necessary component in the structure and function of human cells. However people with FH cannot recycle the natural supply of cholesterol and so these fatty deposits (atheroma) build up in the arteries to unacceptably dangerous levels. Eventually the arteries become so blocked that flow of the blood to the heart or brain is restricted. If some of the atheroma breaks away from the wall of the artery it may result in a blood clot forming in the narrowed arteries which in turn can cause a heart attack or stroke.

There are two main types of cholesterol: high-density lipoprotein (HDL) and low-density lipoprotein (LDL). Lipoprotein is the name for cholesterol combined with the proteins that carry it around your body. An easy way to remember the difference:

  • Low-density lipoprotein bad (LDL) should be Lower
  • High-density lipoprotein good (HDL) should be Higher

Children with diagnosed and treated FH lead normal fulfilling lives

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Young children still die for want of proper and timely FH diagnosis

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Children with diagnosed and treated FH live longer

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