Familial Hypercholesterolaemia – A Genetic Cause of High Cholesterol.

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High Cholesterol is often associated with diet, exercise, smoking, and lifestyle and can put you at significant risk of heart disease. What you may not know if you have not been tested, or show no symptoms, is that high cholesterol can be inherited. Known as Familial Hypercholesterolaemia (FH), this genetic condition can cause extremely high cholesterol levels.

Cholesterol and FH

LDL Cholesterol is often referred to as ‘excess cholesterol’.

Cholesterol is a waxy substance which is mainly made in the body. It is one of several blood lipids (fatty substances) found in your blood.

Cholesterol and other fats use blood circulation to move around the body to where they are needed. They are carried on ‘vehicles’ made up of proteins. These combinations of fats and proteins are called lipoproteins.

There are two main types of lipoproteins – LDL (low-density lipoprotein) and HDL (high-density lipoprotein).

  • Low-density lipoproteins – sometimes called LDL cholesterol or ‘bad cholesterol’ – carry most of the cholesterol from your liver, through the bloodstream, to where it is needed. Much of the cholesterol in your body is carried by LDL. The lower the density of the lipoprotein, the more fats it contains, so having excess LDL is harmful to you.
  • High-density lipoproteins – sometimes called HDL cholesterol or ‘good cholesterol’ – returns the extra cholesterol, that isn’t needed from your cells and your bloodstream to your liver for recycling. HDL cholesterol is a ‘good’ type of cholesterol because it removes cholesterol from your bloodstream. This helps prevent the cholesterol from being deposited in the arteries.

As described by the British Heart Foundation, FH inhibits the liver’s ability to remove this excess LDL cholesterol, putting individuals at greater risk of heart disease and stroke. NHS England estimate that 1 out of 250 people in the UK inherit FH and despite this, many are unaware that they have it.

Familial Hypercholesterolemia - LDL
Familial Hypercholesterolemia - hDL

Identifying FH

Awareness of your cholesterol levels and the prevalence of FH in your family is the initial step in improving your understanding of your current and future health. If a member of your family has been diagnosed with FH, cascade testing of first degree relatives is recommended by NHS England to identify other family members at risk. According to NICE, siblings and children of those with FH have a 50% risk of inheriting FH and if confirmed will have a raised cholesterol level in the blood from birth.

The good news is that once identified FH can be managed using a combination of drug and lifestyle interventions as advised with your GP, including following a healthy diet and lifestyle.

Your risk of genetic Familial Hypercholesterolaemia

As with many health conditions, early detection is key to reducing your risk. UKHSA outline that identifying people with FH at an early stage is vital as without treatment there is an increased risk of a cardiac event in 50% of men by the age of 50, and 30% of women by age 60, with FH.

An initial consultation with a Randox Health Genetic Councillor can help to understand the implications of the test and how your results can impact yourself and your family. Following this, a simple blood test at a Randox Health clinic can identify your genetic risk of Familial Hypercholesterolemia (FH).

Results within 4-6 weeks of your test will highlight key variants that have been identified with significance for risk of disease, advice, and the next steps.

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