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Review
. 2025 May 6;38(9):873-879.
doi: 10.1515/jpem-2025-0127. Print 2025 Sep 25.

Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia

Ariana Maia  1 , Liliana Fonseca  1 , Isabel Palma  1
Affiliations
Review

Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia

Ariana Maia et al. J Pediatr Endocrinol Metab. .

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.

Keywords: cascade screening; dyslipidaemia; familial hypercholesterolemia; genetic testing; paediatric screening; transition of care.

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