Relation of V617F allele burden and coronary calcium score in patients with essential thrombocythemia.

BACKGROUND

V617F () mutation is associated with clonal hemopoiesis in myeloproliferative neoplasms as well as with faster progression of cardiovascular diseases. Little is known about the relationship between allele burden and the degree of atherosclerotic alteration of coronary vasculature. We previously reported that carotid artery stiffness progressed faster in patients with positive essential thromocythemia (ET) patients. After a four-year follow-up we investigated whether mutation burden of a allele correlates with a higher coronary calcium score.

PATIENTS AND METHODS

Thirty-six patients with positive ET and 38 healthy matched control subjects were examined twice within four years. At each visit clinical baseline characteristics and laboratory testing were performed, mutation burden was determined, and coronary calcium was measured.

RESULTS

allele burden decreased in 19 patients, did not change in 5 patients, and increased in 4 patients. The coronary calcium Agatston score increased slightly in both groups. Overall, there was no correlation between allele burden and calcium burden of coronary arteries. However, in patients with the mutation burden increase, the coronary calcium score increased as well.

CONCLUSIONS

The average allele burden decreased in our patients with high-risk ET during the four-year period. However, in the small subgroup whose mutation burden increased the Agatston coronary calcium score increased as well. This finding, which should be interpreted with caution and validated in a larger group, is in line with emerging evidence that mutation accelerates atherosclerosis and can be regarded as a non-classical risk factor for cardiovascular disease.