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Familial hypercholesterolaemia.

Devaki R Nair1, Mahtab Sharifi, Khalid Al-Rasadi

  • 1aDepartment of Metabolic Medicine, Clinical Biochemistry, Royal Free NHS Foundation Trust, London, UK bDepartment of Clinical Biochemistry, Sultan Qaboos University Hospital, Muscat, Oman.

Current Opinion in Cardiology
|May 30, 2014
PubMed
Summary
This summary is machine-generated.

Familial hypercholesterolaemia (FH) is a genetic condition causing high cholesterol and premature heart disease. Increased awareness and new therapies aim to improve FH management and reduce cardiovascular risk.

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Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Pharmacology

Background:

  • Familial hypercholesterolaemia (FH) is a genetic disorder characterized by lifelong elevated cholesterol levels.
  • It is a significant, often underdiagnosed, cause of premature coronary heart disease (CHD).
  • Awareness among non-lipid specialists is limited, leading to underdiagnosis and undertreatment.

Purpose of the Study:

  • To increase awareness of familial hypercholesterolaemia among non-specialists.
  • To highlight current treatment strategies and emerging therapies for FH.
  • To emphasize the importance of improved management for reducing cardiovascular risk.

Main Methods:

  • Review of recent international guidelines for FH management.
  • Analysis of the efficacy of statin therapy in reducing CHD risk.
  • Evaluation of novel therapeutic agents for cholesterol reduction in FH.

Main Results:

  • Statins have reduced CHD risk in FH, but target low-density lipoprotein cholesterol (LDL-C) levels are often unmet, especially in severe cases.
  • New therapies including mipomersen, microsomal triglyceride transfer protein inhibitors, and PCSK9 inhibitors show promise for further LDL-C reduction.
  • A unified global approach to FH management is emerging, facilitated by organizations like the Familial Hypercholesterolaemia Foundation.

Conclusions:

  • Enhanced awareness and accessible guidance are crucial for improving FH management.
  • Novel therapies, pending outcome studies, are expected to significantly lower LDL-C in severe heterozygous and homozygous FH.
  • These advancements hold the potential to substantially reduce the burden of premature CHD in FH patients.