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Managing homozygous familial hypercholesterolaemia from cradle to grave

Gilbert R Thompson1

  • 1Metabolic Medicine, Imperial College, Hammersmith Hospital, London, W12 0NN, UK.

Atherosclerosis. Supplements
|May 5, 2015
PubMed

Insights

Homozygous familial hypercholesterolaemia (FH) presents severe aortic root atherosclerosis, risking early death. Advanced treatments including lipoprotein apheresis and novel drugs offer improved LDL cholesterol reduction.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Metabolic Disorders

Background:

  • Familial hypercholesterolaemia (FH) is a genetic disorder causing high LDL cholesterol.
  • Homozygous FH (HoFH) represents a severe form with significant clinical implications.

Observation:

  • Aortic root atherosclerosis is a common and life-threatening manifestation in HoFH.
  • Patients with receptor-negative mutations, whether homozygous or compound heterozygous, face the highest risk.

Findings:

  • Standard treatments like statins and ezetimibe slow, but do not halt, atherosclerotic progression.
  • Lipoprotein apheresis is a key management strategy for severe HoFH.

Implications:

  • Novel therapies such as lomitapide and evolocumab show promise in further reducing LDL cholesterol.
  • Aggressive, multi-faceted treatment strategies are crucial for managing HoFH and preventing premature cardiovascular events.
Abstract

Keywords:
Compound heterozygoteHomozygoteHypercholesterolaemiaLipoprotein apheresis

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