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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Life Course Approach to Familial Hypercholesterolemia

Marcio H Miname1, Fernanda Del Castanhel1, Marjorie H Mizuta1

  • 1Lipid Clinic Heart Institute (InCor) University of São Paulo Medical School Hospital, São Paulo, Brazil.

Current Cardiology Reports
|November 27, 2025
PubMed

Insights

Familial hypercholesterolemia (FH) advances include better understanding of its natural history, risk, and treatment. Early diagnosis and childhood intervention are crucial for preventing premature cardiovascular disease.

Area of Science:

  • Cardiology
  • Genetics
  • Pharmacology

Background:

  • Familial hypercholesterolemia (FH) affects ~1 in 310 individuals globally.
  • FH significantly increases the risk of premature atherosclerotic cardiovascular disease (ASCVD).

Purpose of the Study:

  • To review recent advancements in the understanding and management of Familial hypercholesterolemia (FH).

Main Methods:

  • Review of current literature on FH natural history, risk stratification, and therapeutic strategies.
  • Analysis of diagnostic criteria including clinical presentation and genetic testing.
  • Evaluation of risk assessment tools like coronary artery calcium scoring.
  • Assessment of pharmacological interventions including statins, ezetimibe, and PCSK9 inhibitors.

Main Results:

  • Significant progress in understanding FH natural history, risk stratification, and treatment efficacy.
  • Early diagnosis via clinical or genetic testing is vital for timely intervention.
  • Cumulative LDL-cholesterol exposure correlates with ASCVD onset and progression.
  • Novel risk prediction models and imaging techniques (coronary artery calcium scoring) improve risk stratification.
  • Effective pharmacological treatments include statins, ezetimibe, and PCSK9 inhibitors.
  • Geriatric FH management requires consideration of frailty and comorbidities.

Conclusions:

  • Advances in FH knowledge necessitate early diagnosis and prompt, lifelong treatment.
  • Personalized therapeutic approaches, considering age and comorbidities, are essential for optimal outcomes in FH patients.
Abstract

Keywords:
AtherosclerosisFamilial hypercholesterolemiaGeneticsPCSK9Statins

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