Lipid abnormalities in children with types A and B Niemann Pick disease

Margaret M. McGovern, Tilla Pohl-Worgall, Richard J. Deckelbaum, William Simpson, David Mendelson, Robert J. Desnick, Edward H. Schuchman, Melissa P. Wasserstein

Research output: Contribution to journalArticle

81 Scopus citations

Abstract

Objective To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype. Study design The study was a cross-sectional analysis of 10 patients with NPD type A and 30 patients with NPD type B that was carried out in the General Clinical Research Center. For each patient, fasting lipid profile and glucose, T4, height or length, weight, resting blood pressure, and acid sphingomyelinase deficiency genotype were measured. In type B patients, electrocardiograhic-gated helical computed tomography of the heart also was obtained. Results Lipid abnormalities included low (<35 mg/dL) high-density lipoprotein cholesterol in 100% of patients and hypertriglyceridemia and increased low-density lipoprotein cholesterol in 62% (25/40) and 67% (27/40) of patients, respectively. Coronary artery calcium scores were positive (>1.0) in 10 of 18 type B patients studied. There was no correlation of the ΔR608 genotype with a milder phenotype for the lipid abnormalities, as has been observed for a number of other NPD manifestations. Conclusions Lipid abnormalities are part of the phenotype in types A and B NPD and may be associated with early atherosclerotic heart disease.

Original languageEnglish (US)
Pages (from-to)77-81
Number of pages5
JournalJournal of Pediatrics
Volume145
Issue number1
DOIs
StatePublished - Jul 1 2004
Externally publishedYes

Keywords

  • ASM
  • ASO
  • Acid sphingomyelinase deficiency
  • Allele-specific oligonucleotide
  • BMI
  • Body mass index
  • ECG
  • Electrocardiographic
  • HDL-C
  • High-density lipoprotein cholesterol
  • LDL-C
  • Low-density lipoprotein cholesterol
  • NPD
  • Niemann Pick disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    McGovern, M. M., Pohl-Worgall, T., Deckelbaum, R. J., Simpson, W., Mendelson, D., Desnick, R. J., Schuchman, E. H., & Wasserstein, M. P. (2004). Lipid abnormalities in children with types A and B Niemann Pick disease. Journal of Pediatrics, 145(1), 77-81. https://doi.org/10.1016/j.jpeds.2004.02.048