by NIH/National Heart, Lung and Blood Institute
Credit: Pixabay/CC0 Public Domain
As the body ages, it is normal for changes in cells to occur.
“Cells divide every day and mutations happen,” said Emma M. Groarke, M.D., an attending hematologist and researcher in NHLBI’s Hematopoiesis and Bone Marrow Failure Laboratory. “Most of the time they don’t have any effect.”
Yet, for some people, mutations in blood-forming cells can multiply and lead to something called clonal hematopoiesis. For a small subgroup of those who have it, this can significantly increase risks for developing heart disease, blood cancer, and other conditions.
Clonal hematopoiesis mostly affects the elderly—about 10–20% of adults ages 70 and older have it while younger adults rarely do. These mutations are often not detected through traditional physical exams, and many people who have them do not experience complications.
“Many of these mutations are low-risk,” said Groarke. “A lot of times they just happen naturally with age, and most people remain healthy.”
So how do doctors identify the people with high-risk mutations? And how do they create personalized therapies to modify those risks and track conditions associated with clonal hematopoiesis? These are questions NIH-supported researchers have been studying and seek to answer.
Here is what they know so far:
Few people have high-risk mutations, but for those who do the risks are especially high
People can have different types of clonal hematopoiesis. When leukemia-like mutations occur in at least 2% of blood-forming cells and without underlying blood conditions, it’s called clonal hematopoiesis of indeterminate potential (CHIP). When unexplained blood conditions or abnormal blood cell counts are present, it is called clonal cytopenia of unknown significance (CCUS).
Researchers have discovered that when it comes to heart disease and blood cancers, only a tiny fraction of adults with CHIP and CCUS face increased risks. But for high-risk adults, the risks are strikingly high.
Investigators using data from the Atherosclerosis Risk in Communities (ARIC) study found that most adults ages 70 and older with clonal hematopoiesis—about 60%—had low-risk mutations and no additional risks for cardiovascular disease.
These findings are published in JAMA Network Open. Significantly, however, the 6% of adults with high-risk mutations had a nearly three-times increased risk for having a fatal heart attack or stroke.
More information: Seyedmohammad Saadatagah et al, Clonal Hematopoiesis Risk Score and All-Cause and Cardiovascular Mortality in Older Adults, JAMA Network Open (2024). DOI: 10.1001/jamanetworkopen.2023.51927
Journal information: JAMA Network Open
Provided by NIH/National Heart, Lung and Blood Institute
Leave a Reply