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Disease control via intensified lipoprotein apheresis in three siblings with familial hypercholesterolemia

Christina Taylan1, Andrea Schlune2, Thomas Meissner2

  • 1Pediatric Nephrology, Children's and Adolescents' Hospital, University Hospital of Cologne, Cologne, Germany.

Journal of Clinical Lipidology
|December 7, 2016
PubMed

Insights

Intensified lipoprotein apheresis effectively lowers LDL cholesterol in children with familial hypercholesterolemia unresponsive to medications. Increasing treatment frequency, not volume, is key to normalizing lipid levels and reducing cardiovascular risk.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol and premature heart disease.
  • Lipoprotein apheresis is a treatment for severe dyslipidemia in children.
  • This study focuses on three siblings with homozygous FH and a specific LDL receptor mutation (p.Trp577Arg) resistant to drug therapy.

Observation:

  • Three siblings (aged 7-13) with homozygous FH had persistently high LDL cholesterol despite 12 months of statin and ezetimibe treatment.
  • They underwent intensified double-filtration plasmapheresis, with treatment parameters adjusted based on lipid levels.

Findings:

  • Each apheresis session initially reduced LDL-C by 66-70%.
  • Increasing session frequency to every 3-4 days, rather than plasma volume, was crucial for maintaining acceptable pre-treatment LDL-C levels.
  • Intensified apheresis was well-tolerated and did not negatively impact quality of life.

Implications:

  • Intensified lipoprotein apheresis can normalize lipid levels in pediatric FH patients refractory to drug treatment.
  • Treatment frequency is a critical factor in apheresis efficacy for FH.
  • Aggressive lipid management in FH is essential for minimizing long-term cardiovascular risk.
Abstract

Keywords:
Cardiovascular monitoringChildrenEvolocumabHyperlipidemiaStatins

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