A new medical study has revealed that most individuals who have a hereditary tendency for high cholesterol and an increased risk of heart disease at a young age remain unaware of their condition.
According to foreign media, researchers recently reported in the journal Circulation Genomic and Precision Medicine that nearly 90 percent of participants who carried the genetic markers of the hereditary condition called familial hypercholesterolemia were unaware of this risk. These individuals only discovered their condition through DNA testing conducted during the study.
Unfortunately, 1 in 5 of them had already developed heart disease caused by blocked or hardened arteries.
According to lead author Dr. Nilay Jewel Samdar, the findings highlight a major gap in current guidelines, which rely only on cholesterol levels and family history to recommend genetic testing. He said that if individuals at risk of heart disease can be identified early, timely treatment could help save their lives.
Familial hypercholesterolemia is one of the most common genetic disorders in the world, affecting 1 in every 200 to 250 people. In this condition, harmful LDL cholesterol levels are extremely high from birth.
In the new research, scientists examined genetic samples of more than 80,000 patients. Among them, 419 individuals carried genetic variants responsible for the disease, and 9 out of 10 were unaware of their risk.
The findings suggest that guidelines for genetic testing should be updated to ensure earlier identification of high risk patients. Such individuals can be given cholesterol lowering medications in time to prevent their elevated cholesterol from leading to heart disease, heart attack, or stroke.
Researchers also said further studies are needed to determine which groups of people would be most suitable for screening.
