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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Familial Hypercholesterolaemia in Children and Adolescents: Current and Future Perspectives

Francesco Martino1, Francesco Barilla2, Eliana Martino1

  • 1La Sapienza University, Rome, Italy.

Current Pediatric Reviews
|September 26, 2022
PubMed

Insights

Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol from birth. Early diagnosis and treatment, including medications and apheresis, are crucial to prevent early atherosclerosis and cardiovascular events.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Metabolic Disorders

Background:

  • Familial hypercholesterolemia (FH) is an inherited condition characterized by elevated low-density lipoprotein (LDL) cholesterol levels from birth.
  • This genetic disorder significantly increases the risk of premature atherosclerosis and related cardiovascular diseases.
  • Current diagnostic approaches for FH often result in delays or missed diagnoses, hindering timely intervention.

Purpose of the Study:

  • To emphasize the critical importance of early detection and diagnosis of Familial hypercholesterolemia.
  • To highlight the available and investigational therapeutic strategies for managing FH in pediatric and adolescent populations.
  • To underscore the long-term benefits of cholesterol-lowering interventions in preventing cardiovascular complications.

Main Methods:

  • Review of current medical literature on Familial hypercholesterolemia diagnosis and treatment.
  • Analysis of therapeutic options, including first-line pharmacotherapy (statins, ezetimibe) and advanced treatments like lipoprotein apheresis.
  • Discussion of emerging drug therapies and their potential role in personalized FH management.

Main Results:

  • Delayed diagnosis is a common challenge in FH, impacting the initiation of preventive measures.
  • Statins, with or without ezetimibe, are effective first-line treatments for children and adolescents with FH.
  • Lipoprotein apheresis is a safe and efficient option for patients not reaching therapeutic targets, especially those with homozygous FH.

Conclusions:

  • Prompt identification and management of FH in early life are essential for reducing the burden of atherosclerosis.
  • Aggressive lipid-lowering strategies, including established and novel therapies, are vital for preventing future cardiovascular events.
  • Early intervention in FH can significantly improve long-term health outcomes and reduce lifelong cardiovascular risk.

Keywords:
Familial hypercholesterolemiaezetimibelipoprotein apheresislow-density lipoprotein cholesterolproprotein convertase subtilisin/ kexin type 9statin

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