
A new study from Karolinska Institutet has found that certain protein patterns in the blood may help identify people at higher risk for hereditary heart disease—even if they seem otherwise healthy.
The research focused on people who had close family members, like parents or siblings, who suffered a heart attack at a young age. The study was published in the journal Circulation: Genomic and Precision Medicine.
Researchers looked at blood samples from more than 4,000 people who had no known heart disease. They checked whether these people had a family history of cardiovascular disease and studied the proteins in their blood.
What they found was surprising: 38 different proteins, many linked to inflammation and fat metabolism, were more common in people with a family history of early heart attacks.
Some of the most important proteins were follistatin and cathepsin D. These proteins were found at higher levels in people with family-related heart risk, even if they had normal blood pressure or cholesterol. That means these proteins could signal hidden risk that wouldn’t show up in traditional health tests.
The study used data from SCAPIS, a large health project in Sweden. Participants had detailed health exams, including scans of their heart arteries.
By linking this information with national family records, scientists showed that people with a family history of early heart disease often had more signs of atherosclerosis—the buildup of plaque in the arteries—even if they felt fine.
The researchers also discovered that certain proteins were even more strongly connected to how bad the artery damage was in people with a family history. These included the LDL receptor, which helps manage cholesterol, and PECAM1, a protein that affects how blood vessels work.
Dr. Agnes Wahrenberg, the study’s first author, said the findings show that biological markers like proteins may help explain why some people get heart disease even if they follow healthy habits. It suggests that genetics and inherited risks play a bigger role than we might realize.
Dr. Per Svensson, one of the senior researchers, added that these protein patterns could be useful in the future for identifying people who need early heart screenings, even if their regular check-ups look normal.
The researchers also looked at whether some of these proteins could be causing heart disease directly. They used genetic testing to explore this and found signs that follistatin, PCSK9, and PECAM1 may actually play a role in the development of heart attacks. This opens up the possibility that these proteins could one day become targets for new treatments.
Overall, the study gives new insight into how heart disease can run in families and how science might use simple blood tests to detect hidden risks. It also shows the value of large-scale health studies like SCAPIS, which bring together health scans, genetic testing, and family records to uncover important clues about disease.
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