What is the clinical question being addressed? What are the characteristics and medical lifetrajectories of HoFH patients treated in contemporary health care? What is the main finding? This analysis of HoFH patients highlights the young age at death, mostly from cardiovascular causes, and the low attainment of LDL-C goals despite treatment advances, underscoring the need for earlier diagnosis and better treatment.
Mulder, J.W.C.M., Reijman, M.D., Kusters, D.M., Boersma, E., Alnouri, F., Blom, D.J., et al. (2025). Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 85(19), 1898-1903 [10.1016/j.jacc.2025.04.005].
Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition
Averna, Maurizio;Cefalu', Angelo Baldassare;Giammanco, Antonina;
2025-05-20
Abstract
What is the clinical question being addressed? What are the characteristics and medical lifetrajectories of HoFH patients treated in contemporary health care? What is the main finding? This analysis of HoFH patients highlights the young age at death, mostly from cardiovascular causes, and the low attainment of LDL-C goals despite treatment advances, underscoring the need for earlier diagnosis and better treatment.
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