Two simple tests identify people at premature heart risk

by time news

R. I.

Madrid

Updated:18/05/2022 18:05h

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Screening and genetic testing could identify more than a million adults in the US who carry the gene for familial hypercholesterolemia, a common genetic disorder that causes an elevated level of low-density lipoprotein (LDL) cholesterol, known as “bad cholesterol,” which can lead to premature heart attack or death, according to new research published in the Journal of the American Heart Association.

Familial hypercholesterolemia is a inherited genetic disorder It affects how the body recycles bad cholesterol. As a result, LDL levels in the blood remain very high; in severe cases, levels can exceed 190 milligrams per deciliter (mg/dL) of blood in adults.

The desirable level of LDL is less than 100 mg/dL. However, total blood cholesterol levels should be considered in the context of other known cardiovascular disease risk factors.

It is estimated that 1 in 250 people in the US may carry at least one gene for familial hypercholesterolemia. Among people who have a gene for familial hypercholesterolemia, the mean age at a first heart attack heart if the disease is not treated, it is 50 years for men and 60 years for womenwhile the median age of a first heart attack in the general population is 66 years for men and 72 years for women.

The median age of a first heart attack in the general population is 66 years for men and 72 years for women.

Much fewer people may inherit two familial hypercholesterolemia genes (one from each parent), and have more serious complications, such as much higher bad cholesterol and heart disease that begin in childhood or adolescence.

“Currently, most individuals are not diagnosed with familial hypercholesterolemia until they are 50 years old. If a young adult is identified as having familial hypercholesterolemia, they are likely to benefit from earlier and more aggressive treatment to prevent heart attack and stroke,” said study lead author Brandon K. Bellows, a professor at the University of Columbia in New York City.

The American Heart Association recommends that all adults age 20 and older have their cholesterol and other traditional cardiac risk factors checked every four to six years, if risk remains low. Screening for familial hypercholesterolemia is not standard and requires accurate collection of additional clinical information or diagnostic genetic testing.

An earlier 2020 American Heart Association statement suggested that genetic testing for cardiovascular disease should normally be reserved for people who have a confirmed or suspected diagnosis of a disease and those with a known disease-causing genetic variant in their family.

On the other hand, the researchers calculated how many people with familial hypercholesterolemia could be identified if all adults were screened using clinical factors, such as cholesterol levels and the presence of early heart disease in an individual or a close family member. (father, brother or son), with and without genetic tests.

When clinical criteria and genetic testing were combined, 6.6 cases of familial hypercholesterolemia were identified per 1,000 adults screened.

Clinical criteria alone identified 3.7 cases of familial hypercholesterolemia per 1,000 adults screened, while genetic testing alone identified 3.8 cases of familial hypercholesterolemia per 1,000 adults screened.

When clinical criteria and genetic testing were combined, 6.6 cases of familial hypercholesterolemia were identified per 1,000 adults screened.

In young adults ages 20 to 39, clinical criteria alone identified 1.3 cases of familial hypercholesterolemia per 1,000 screened individuals, a figure that increased to 4.2 per 1,000 when genetic testing was also included.

“We need to do more to support screening programs for familial hypercholesterolemia,” says Bellows. “Screening for familial hypercholesterolemia should include clinical factors and genetic tests. People with high cholesterol levels or with a family member who has had a heart attack at an early age should undergo genetic testing to detect familial hypercholesterolemia. Early diagnosis and treatment of familial hypercholesterolemia is the best way to reduce the risk of having a heart attack or stroke at an early age.”

The higher proportion of people identified by genetic testing in addition to clinical criteria indicates that many people with a genetic mutation may not present the typical clinical picture at the time of screening.

“This has been seen in other studies. Universal screening programs with genetic testing may be the best way to identify these people. However, this may be impractical and therefore screening targeted at specific groups, such as young adults, may allow earlier identification and treatment of familial hypercholesterolemia,” Bellows adds.

Universal screening programs with genetic tests may be the best way to identify these people

One of the limitations of the study is that the UK biobank dataset was a population of older adults (ages 40-69) and most of whom self-identified as white. Therefore, the analysis of the UK Biobank dataset may not be generalisable to diverse or younger populations.

Researchers are conducting follow-up studies to answer questions about the most useful and cost-effective strategies for screening for familial hypercholesterolemia, such as best age to start screening and whether there is a difference in the number of heart attacks and strokes depending on the method of screening, for example universal screening versus close relatives with familial hypercholesterolemia.

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