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Over 170,000 in UK may have undiagnosed genetic high cholesterol

More than two-thirds of people with familial hypercholesterolaemia (FH) in the UK are undiagnosed, a condition that can lead to early heart attacks.

  • Familial hypercholesterolaemia (FH) is a genetic condition causing high cholesterol, affecting about 1 in every 250-500 people.
  • The British Heart Foundation estimates over 250,000 people in the UK have FH, but more than two-thirds are never diagnosed.
  • Northern Ireland has the highest detection rate for FH in the UK, with a screening service for family members.

A genetic condition known as familial hypercholesterolaemia (FH), which causes high cholesterol and can lead to early heart attacks, is believed to affect over 250,000 people in the UK. However, more than two-thirds of those with FH are never diagnosed, according to estimates from the British Heart Foundation.

Sandra McCartney, from Londonderry, was diagnosed with FH after suffering a cardiac arrest in 2019. She was clinically dead for 10 minutes during a holiday in Spain, where medics used six defibrillator shocks and five shots of adrenaline to restore her heart rhythm.

FH is a common genetic condition, with a 50% chance of a child inheriting it if one parent has it. If left untreated, 50% of men and 30% of women with FH may develop coronary heart disease by the age of 55. Northern Ireland operates a screening service for family members of those diagnosed with FH, leading to the highest identification rate in the UK.

Once diagnosed, FH can be managed with standard cholesterol-lowering medications, typically requiring only periodic cholesterol checks thereafter.

Why this matters: Untreated familial hypercholesterolaemia (FH) can lead to very high cholesterol, significantly increasing the risk of heart attacks or strokes.

What this means for you: If you have a family history of early heart attacks or high cholesterol, you may wish to discuss the possibility of FH with a healthcare professional.

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