Silent threat in the blood: how mutated blood cells drive heart disease
Cardiology, Cardiovascular diseases, Medical Diagnostics
Recent German research has uncovered a hidden cardiovascular risk factor: blood cells carrying somatic mutations, known as CHIP (Clonal Hematopoiesis of Indeterminate Potential). These are not inherited mutations, but DNA alterations acquired by blood stem cells over time. They quietly increase inflammation, raising risks for heart attack, stroke, valve disease—and even early death.
Initial studies by Benjamin Ebert’s team in Boston (2014) revealed that ~10% of older adults harbor leukemia-associated mutations in some white blood cells—but fewer than 1% developed leukemia. What became clear, though, was far more striking: those with CHIP mutations were dying sooner, primarily from vascular disease—not cancer.
German researchers at DZHK quickly followed up, demonstrating that mutated white blood cells infiltrate atherosclerotic plaques. There, they ramp up inflammation and destabilize plaque walls, making heart attacks and strokes more likely. Studies linking CHIP in genes like DNMT3A and TET2 to worse recovery after aortic valve replacement are shedding light on deep biological mechanisms—potentially revealing new therapeutic targets.
One powerful indicator came from the CANTOS trial (2017), which used an anti-inflammatory antibody to reduce cardiovascular events. A post-hoc analysis showed patients with TET2 CHIP mutations experienced a 62% reduction in serious events, much greater than the trial average—highlighting the potential for precision treatment in this subgroup.
In Germany, an estimated 5–6 million individuals carry CHIP. Thanks to advances in targeted mutation panels, analysis is now cost-effective. Several DZHK centers are launching specialized CHIP clinics and registries (e.g., Munich’s) to identify high-risk patients and explore anti-inflammatory therapies. CHIP even has an ICD‑10 code (U62.00), signaling its emerging clinical importance.