Health tests and genetic tests may identify people at risk for early-stage heart disease

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Health tests and genetic tests can identify more than one million adults in the United States who carry the gene for familial hypercholesterolemia. It is a common hereditary disorder that causes an increase in low-density lipoprotein (LDL) cholesterol, known as “bad cholesterol,” which can lead to early onset of the heart.Attack or death, according to a new study published today Journal of the American Heart AssociationAmerican Heart Association Open Access Peer Review Journal.

According to the American Heart Association Familial hypercholesterolemia Will be inherited Hereditary disease It affects how the body recycles bad cholesterol. As a result, blood LDL levels remain very high. In severe cases, blood levels in adults can exceed 190 milligrams (mg / dL) per deciliter. The desired level of LDL is less than 100 mg / dL.However, total blood cholesterol levels should be considered in the context of other known situations. Risk factors for cardiovascular disease..

An estimated 1 in 250 people in the United States may have at least one gene for familial hypercholesterolemia. Among those who have one familial hypercholesterolemia gene, First heart attack If the condition is untreated, it is 50 years for men and 60 years for women, but the average age of the first heart attack is General population Men are 66 years old and women are 72 years old. There are far fewer people who inherit the two genes of familial hypercholesterolemia (one from each parent) and there are more serious complications, such as much higher bad cholesterol. Heart disease It begins in childhood or adolescence.

“Currently, most people are not diagnosed with familial hypercholesterolemia until they are in their 50s. To prevent heart attacks and strokes when young adults are identified with familial hypercholesterolemia. May benefit from early and more aggressive treatment, “the study states. Lead author Brandon K. Bellows, Pharm.D. , MS, Associate Professor of Medicine at Columbia University in New York City.

The Recommended by the American Heart Association All adults over the age of 20 are checked for cholesterol and other traditional heart risk factors every 4-6 years if the risk remains low. Screening for familial hypercholesterolemia is non-standard and requires accurate collection of additional clinical information or diagnostic genetic testing. Genetic testing is available. However, if you do not have health insurance, it may not be affordable for many. 2020 American Heart Association Scientific Statement Genetic testing for cardiovascular disease should usually be reserved for people with a confirmed or suspected diagnosis of the condition, and for people with genetic mutations that cause the disease known to the family. Suggests.

In this study, researchers used clinical factors such as cholesterol levels in individuals or relatives (parents, siblings, or children) and the presence of early-stage heart disease to screen all adults for familial hypercholesterolemia. We estimated how many people with blood loss could be identified. With or without genetic testing.

Researchers obtained clinical information and genetic test results from approximately 50,000 adults aged 40 to 69 years from UK Biobank, which was collected between 2006 and 2010. About their clinical information. To estimate the genetic variation of familial hypercholesterolemia in the US population with no genetic test results, researchers have found a relationship observed at the UK Biobank near 40,000 from the National Health and Nutrition Examination Survey. Applied to human adult (20+) datasets. (NHANES).

UK Biobank is a large biomedical database containing genetic and health information for 500,000 people living in the United Kingdom. NHANES is a national representative sample of adults in the United States, including people of different racial and ethnic backgrounds, collected from 1999-2000 to 2015-2016.

To assess the performance of clinical criteria in US data, researchers used the Dutch Lipid Clinic Network Criteria for familial hypercholesterolemia based on a scoring system that combined a personal history of early-stage heart disease. Classified people who are confirmed or likely.Family history of early heart attack or heart-related chest pain (angina) in siblings, parents, or children; untreated high Bad cholesterol Levels, more points for higher cholesterol levels.

Using this multi-step approach, the result is estimated as follows:

  • Clinical criteria alone identified 3.7 cases of familial hypercholesterolemia per 1,000 screened adults, and genetic testing alone identified 3.8 cases of familial hypercholesterolemia per 1,000 screened adults. rice field.
  • A combination of both clinical criteria and genetic testing identified 6.6 cases of familial hypercholesterolemia per 1,000 adults screened.
  • In young adults aged 20-39 years, clinical criteria alone identified 1.3 cases of familial hypercholesterolemia per 1,000 screened cases and increased to 4.2 per 1,000 people including genetic testing.

“More things need to be done to support the screening program for familial hypercholesterolemia,” says Bellows. “Screening for familial hypercholesterolemia should include clinical factors and genetic testing. People with high cholesterol levels or those with a family member who had a heart attack at a young age have familial hypercholesterolemia. You need to be genetically tested for the disease. Early diagnosis and treatment of familial hypercholesterolemia is best. How to reduce early risk heart attack Or stroke. “

The high proportion of people identified by genetic testing added to the clinical criteria indicates that many people with genetic mutations may not show the typical clinical picture at screening. “This has also been seen in other studies. Genetic testing It may be the best way to identify these individuals. However, this can be impractical, and therefore screening for specific groups, such as young adults, may enable early identification and treatment of familial hypercholesterolemia. “Mr. Bellows said.

The limitations of this study include the self-awareness that the UK Biobank dataset is a population of older people (ages 40-69), the majority of whom are Caucasian. Therefore, analysis of the UK Biobank dataset may not be generalized to diverse or young populations.

Researchers are conducting follow-up to answer questions about the most useful and cost-effective strategies for screening for familial hypercholesterolemia. For example, the best age to start screening, heart Seizures and strokes based on screening methods, such as universal screening vs. familial relatives Hypercholesterolemia..

New gene for familial high cholesterol

For more information:
Estimated yield of screening for heterozygous familial hypercholesterolemia with and without genetic testing in adults in the United States, Journal of the American Heart Association (2022). DOI: 10.1161 / JAHA.121.025192

Quote: Health checkups and genetic tests are available from on May 18, 2022 for early-stage heart disease (May 2022). 18 days) may identify people at risk. html

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