Familial Hypercholesterolaemia

There are some extreme cases of high cholesterol which run in families, for example, familial hypercholesterolaemia (FH). FH is a genetic problem and results in exceptionally high total cholesterol levels, usually between 8 and 12 mmol/L (but it can be as high as 20 mmol/L) Triglycerides are generally not increased, or if they are, only moderately. High cholesterol levels start from birth and are present throughout life. People with FH are at risk of early heart disease and may suffer or die from heart disease early in life, often in their 40's or 50's, sometimes earlier.

FH occurs in about 1 person in 500 and more than 100,000 people in the UK have FH, about the same number as people with Type 1 diabetes. However, many people with FH go undetected with tragic consequences. As FH is a genetic problem, there may be many relatives in the same family with the identical disorder. It can be passed from parent to child and each child has an even chance (50/50) of having FH too. Whenever FH is diagnosed, it is essential that all close relatives have their cholesterol levels measured so they can be treated. The good news is that once FH is diagnosed it is satisfactorily treatable by a healthy lifestyle and statin medication and risks of early heart disease can be reduced.

There are other inherited disorders of cholesterol, for example, familial combined hyperlipidaemia (FCH). This results in high triglyceride levels as well as a high cholesterol level. Treatment is very similar to FH involving healthy lifestyle and lipid lowering medication.