Related Experiment Video

Updated: May 9, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia

Ariana Maia1, Liliana Fonseca1, Isabel Palma1

  • 1Serviço de Endocrinologia, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|May 4, 2025
PubMed

Insights

Familial hypercholesterolemia (FH) management requires early detection and genetic screening. This genetic disorder necessitates lifelong lipid-lowering therapy to prevent premature cardiovascular disease and improve patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is a prevalent genetic disorder causing high LDL-C levels.
  • Elevated LDL-C from childhood significantly increases premature atherosclerotic cardiovascular disease risk.

Purpose of the Study:

  • To outline strategies for improving early detection and genetic screening of FH.
  • To provide recommendations for holistic, long-term management of FH patients.
  • To emphasize seamless transition from pediatric to adult care for sustained adherence.

Main Methods:

  • Review of current literature and clinical guidelines on FH management.
  • Development of recommendations for screening programs and genetic testing.
  • Framework for integrated care pathways, including transition services.

Main Results:

  • Early identification and intervention are critical for mitigating cardiovascular risk in FH.
  • Genetic testing aids in accurate diagnosis and family screening.
  • Comprehensive management strategies improve quality of life and reduce mortality.

Conclusions:

  • Effective screening, genetic testing, and timely lipid-lowering therapy are essential for FH patients.
  • Continuity of care, especially during healthcare transitions, is vital for long-term treatment adherence and outcomes.

Keywords:
cascade screeningdyslipidaemiafamilial hypercholesterolemiagenetic testingpaediatric screeningtransition of care

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