[Treatment of homozygous familial hypercholesterolemia with LDL-apheresis on a 4-year-old child]

Arch Pediatr. 2009 Dec;16(12):1554-8. doi: 10.1016/j.arcped.2009.08.007. Epub 2009 Sep 18.
[Article in French]

Abstract

Homozygous familial hypercholesterolemia (HFH) is a rare genetic disease associated with increased atherosclerosis, resulting in premature death near the age of 20 years. Treatment requires the LDL-apheresis system. M, born from a consanguineous union, suffers from HFH (total-cholesterol=12.29 g/l, LDL-cholesterol=9.65 g/l). Diet and drug treatment was not associated with decreased LDL-cholesterol. At the age of 4.5 years (body weight: 16.7 kg), M began treatment with LDL-apheresis. Apheresis treatment was given every 2 weeks using the Direct Adsorption of LIpoprotein (DALI system, a process that involves total-blood filtration. During the first 26 sessions, the mean reduction in LDL-cholesterol was 67+/-12%, while HDL-cholesterol decreased by only 17+/-11%. Mean LDL-cholesterol concentration decreased from 6.54+/-0.93 g/l (before apheresis) to 2.21+/-0.95 g/l (after apheresis). Apart from iron deficiency anemia, no major side effects were observed. LDL-apheresis using the DALI system is associated with significant reductions in LDL-cholesterol (similar to reports from the literature) without major side effects, even in a child weighing less than 20 kg. A long term, multinational (European) study is needed to confirm these results.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Biomarkers / blood
  • Blood Component Removal / methods*
  • Body Mass Index
  • Child, Preschool
  • Cholesterol / blood
  • Cholesterol, LDL / blood*
  • Consanguinity
  • Humans
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / complications
  • Hyperlipoproteinemia Type II / therapy*
  • Lipoproteins / blood
  • Male
  • Treatment Outcome

Substances

  • Biomarkers
  • Cholesterol, LDL
  • Lipoproteins
  • Cholesterol