What's the link between cholesterol and familial hypercholesterolaemia (FH)?

Raised cholesterol is one of the biggest risk factors for the development of cardiovascular disease, and in most cases, this is caused by our lifestyle. Maintaining a healthy diet and exercising regularly can ensure we stay a normal bodyweight, which in most cases should keep cholesterol levels under control.

However, there are some cases where raised cholesterol is instead caused by the genetic make-up of the individual, which is known as familial hypercholesterolaemia (FH).

Our genes control our cholesterol by managing how it is metabolised within our blood stream, and FH is caused by a defect or malfunction within these genes.

The malfunctioning gene usually comes from just one parent, which impacts around one in 500 people. Unfortunately, this is likely to raise the risk of cardiovascular disease by four-fold in later life. There is an even more severe health risk if the defective genes have come from both parents, but thankfully this is extremely rare.

What are the signs of FH?

There are a few obvious signs of the condition, which include:

  • Raised cholesterol in the immediate family
  • Fatty deposits (xanthelasmas) within the eyelids
  • Fatty deposits around the joints, tendons and buttocks, known as xanthomas
  • A pale ring around the cornea of the eye
  • Very high cholesterol (a total cholesterol above 7.5mmo/L, and LDL above 5.0mmo/L
  • Premature cardiovascular disease in the family (under 50 for men and 60 for women).

Is there any treatment?

Although FH is caused by genetics and not lifestyle, it is paramount that people with FH make healthy lifestyle choices to keep their cholesterol as far as possible within target limits. This will ensure that LDL levels do not rise any higher than they are naturally through the body, while the protective HDL level will be at the highest possible level.

The simple first step is changing to heart healthy diet, but the fats you eat are equally important. Saturated and trans-fats need to be limited, while you should also eat healthy amounts of unsaturated and omega fats. You should also eat plenty of soluble fibre. Foods high in soluble fibre include oats, okra, aubergines and stoned fruit.

Next you need to ensure you are fit and active. Walking briskly for half an hour a day can work wonders, and in combination with a healthy diet, it can help you maintain a healthy bodyweight with a BMI in the recommended range.

You should also ensure your alcohol intake is kept to a healthy level, with no more than 14 units consumed each week, and you should refrain from smoking.

How about medical treatment?

Because cholesterol should be brought down by so much if you have FH, these lifestyle changes, while important, will not be enough on their own - if you have FH, you'll need to take regular medicines to bring down your cholesterol too. Your doctor will be able to help find the right course of treatment for you.


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