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Homozygous familial hypercholesterolemia with an update on cholesterol management

Anju J J Velvet1, Handrean Soran2, Bernard Clarke1

  • 1Manchester Heart Centre, Manchester Royal Infirmary, Manchester University NHS Foundation Trust, Manchester, UK.

Oxford Medical Case Reports
|September 30, 2020
PubMed

Insights

Familial hypercholesterolemia (FH) is a genetic disorder often underdiagnosed. This case highlights the severe cardiovascular risks of homozygous FH and reviews advanced treatment options.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Metabolic Disorders

Background:

  • Familial hypercholesterolemia (FH) is an autosomal dominant inherited condition.
  • It significantly elevates the risk of premature cardiovascular disease.
  • Underdiagnosis and undertreatment remain significant challenges.

Observation:

  • Most FH cases result from defective low-density lipoprotein receptor (LDLR) activity.
  • Homozygous FH, though rare, presents with extremely high cholesterol levels.
  • This case involved a patient with homozygous FH due to an LDLR mutation.

Findings:

  • The patient developed severe coronary artery and aortic valve disease.
  • Aggressive lipid-lowering therapy was insufficient to prevent advanced cardiovascular complications.
  • Advanced therapies like lipoprotein apheresis, PCSK9 inhibition, and lomitapide are crucial.

Implications:

  • Early detection and aggressive management of FH are critical for preventing cardiovascular events.
  • Homozygous FH requires intensive, multi-modal treatment strategies.
  • Further research into novel lipid-lowering therapies is essential for improving outcomes in severe FH.

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