J Pediatr Endocrinol Metab. 2025 May 6. doi: 10.1515/jpem-2025-0127. Online ahead of print.
ABSTRACT
Familial hypercholesterolemia (FH) is a common genetic disorder with a co-dominant inheritance pattern, characterized by persistently elevated levels of atherogenic low-density lipoprotein cholesterol (LDL-C) and a significantly increased risk of premature atherosclerotic cardiovascular disease. Given that the cardiovascular risk associated with elevated LDL-C begins in early childhood and progresses over time, early identification and long-term management are crucial. Implementing effective screening programs, genetic testing, and timely initiation of lipid-lowering therapy are essential strategies to mitigate future coronary events, improve quality of life, and reduce morbidity and mortality. This document outlines strategies and recommendations to improve early detection, genetic screening, and holistic management of individuals affected by FH, with particular emphasis on facilitating a structured transition from pediatric to adult healthcare services to ensure continuity of care and sustained treatment adherence.
PMID:40319506 | DOI:10.1515/jpem-2025-0127
