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Diagnosis and treatment of familial hypercholesterolaemia

G Kees Hovingh1, Michael H Davidson, John J P Kastelein

  • 1Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Room F4-159.2, 1105 AZ Amsterdam, The Netherlands.

European Heart Journal
|February 19, 2013
PubMed

Insights

Familial hypercholesterolaemia (FH) is a genetic disorder causing high LDL-C. Early diagnosis and new treatments are crucial for preventing cardiovascular disease in FH patients.

Area of Science:

  • Cardiovascular Genetics
  • Pharmacotherapy

Background:

  • Familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterized by elevated low-density lipoprotein-cholesterol (LDL-C).
  • High LDL-C levels significantly increase the risk of premature cardiovascular disease, emphasizing the need for early diagnosis and intervention.
  • Current diagnostic methods include clinical assessment and genetic testing, with a focus on reducing LDL-C levels to prevent morbidity and mortality.

Purpose of the Study:

  • To review current and emerging treatment strategies for managing Familial hypercholesterolaemia.
  • To discuss the diagnostic approaches for FH, including clinical and genetic testing.
  • To highlight the importance of achieving target LDL-C levels in FH patients.

Main Methods:

  • Review of current literature on FH diagnosis and treatment.
  • Analysis of existing guidelines for LDL-C management in FH.
  • Exploration of novel pharmacotherapies targeting LDL-C metabolism.

Main Results:

  • Statins are the standard treatment but many FH patients do not reach target LDL-C levels.
  • New drug classes are under investigation, including agents inhibiting apolipoprotein B and pro-protein convertase subtilisin/kexin 9 (PCSK9).
  • Therapies aimed at increasing high-density lipoprotein cholesterol are also being evaluated.

Conclusions:

  • Effective management of FH requires a multi-faceted approach including early diagnosis and aggressive LDL-C lowering.
  • Novel therapeutic agents show promise in improving LDL-C control beyond current standards.
  • Continued research into FH treatment is essential to reduce the cardiovascular burden associated with this genetic disorder.

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