Hereditary Cholesterol Disease 'Overlooked And Untreated'


Hereditary high blood cholesterol -familial hypercholesterolaemia - a potentially fatal disease, is largely overlooked and untreated across the globe - including Europe.

According to the British Heart Foundation, about 50% of men and 30% of women with familial hypercholesterolaemia will develop coronary heart disease by the time they’re 55.

But according to a recent report, the disease is easy to diagnose and treat.

The findings, reported by the European Atherosclerosis Society and published in European Heart Journal, documents massive underdiagnosis and undertreatment of familial hypercholesterolaemia in practically all 200 countries in the world, except the Netherlands and Norway.

"In most countries, the number of people with familial hypercholesterolaemia is unknown. This means that the condition is not detected until the person develops heart disease or dies suddenly far too young. Considering how easily the disease can be prevented, this situation is an admission of failure from a health perspective," says Børge Nordestgaard, the study's lead author.

He adds: "In the general population, between 1 in 200 and 1 in 500 people inherit the disease familial hypercholesterolaemia, making the disease the most frequent hereditary and fatal disease.

"However, statins, which are safe and inexpensive treatments, can lower cholesterol levels. For these persons with a greatly increased risk of developing serious heart disease, the few side effects associated with statins are negligible."

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Between 14 and 34 million people worldwide are estimated to suffer from familial hypercholesterolaemia. In Europe, the number is between 1.8 and 4.5 million .

Familial hypercholesterolaemia is easy to diagnose; it only requires a blood cholesterol test and a family history of early-onset heart disease.

"It is surprising and sad that even rich countries with highly developed health systems fail to help these people. It is not a question of economic resources, as the disease is easy to diagnose and inexpensive to treat," says co-author professor John Chapman.

According to Børge Nordestgaard, a coordinated national effort is required, with clinics at all major hospitals in most countries, similar to the existing diabetes clinics.

"It would also improve the registration of familial hypercholesterolaemia and the families affected if the World Health Organisation (WHO) decided to assign the disease its own diagnostic code as is the case with diabetes," Børge Nordestgaard concludes.