The early initiation of disease-modifying therapy (DMT) in childhood and its continuation prevented diffuse myocardial fibrosis and diastolic dysfunction among patients with sickle cell anemia (SCA), according to the results of a study published in the journal Blood.

“Our study provides further evidence supporting the universal use of early, presymptomatic, disease-modifying therapy in SCA,” the authors wrote in their report.

Diastolic dysfunction is associated with early mortality in SCA, and diffuse myocardial fibrosis is common in diastolic dysfunction-associated cardiomyopathy. The aim of this study was to evaluate whether SCA-directed treatment initiated in childhood could mitigate myocardial fibrosis.


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The study evaluated data from 12 patients with SCA who had received treatment with hydroxyurea or chronic transfusions for at least 5 years and beginning before age 6 years. There was no concomitant cardiovascular therapy.

The mean age of the patients was 16.9 (range, 7-28 years), and the mean age of treatment initiation was 3.1, which was continued for a mean of 13.7 years.

The extracellular volume fraction (ECV) was a mean of 0.30 for the entire SCA cohort, which was similar to healthy controls at 0.26 (P =.11) but significantly lower than a mean of 0.44 among patients with SCA who had not received early treatment (P =.002). Normal ECV was present among 67% of patients, indicating no evidence of myocardial fibrosis.

Diastolic dysfunction was not reported, although 2 patients had an inconclusive reading. The entire cohort demonstrated a preserved left ventricular ejection fraction.

The authors concluded that “we demonstrate that the early initiation and uninterrupted use of SCA-directed disease-modifying therapy, ether chronic transfusions or hydroxyurea, can impede or prevent the development of diffuse myocardial fibrosis.”

Reference

Niss O, Detterich J, Wood JC, et al. Early initiation of disease-modifying therapy can impede or prevent diffuse myocardial fibrosis in sickle cell anemia. Blood. 2022;140:1322-1324. doi: 10.1182/blood.2021015303