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

78 Citations (Scopus)

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 2004
Externally publishedYes

Fingerprint

Type B Niemann-Pick Disease
Type A Niemann-Pick Disease
Lipids
Genotype
Niemann-Pick Diseases
Phenotype
Spiral Computed Tomography
Heart Diseases
Fasting
Cardiovascular Diseases
Cross-Sectional Studies
Blood Pressure
Weights and Measures
Glucose
Acids

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

McGovern, M. M., Pohl-Worgall, T., Deckelbaum, R. J., Simpson, W., Mendelson, D., Desnick, R. J., ... 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

Lipid abnormalities in children with types A and B Niemann Pick disease. / McGovern, Margaret M.; Pohl-Worgall, Tilla; Deckelbaum, Richard J.; Simpson, William; Mendelson, David; Desnick, Robert J.; Schuchman, Edward H.; Wasserstein, Melissa P.

In: Journal of Pediatrics, Vol. 145, No. 1, 07.2004, p. 77-81.

Research output: Contribution to journalArticle

McGovern, MM, Pohl-Worgall, T, Deckelbaum, RJ, Simpson, W, Mendelson, D, Desnick, RJ, Schuchman, EH & Wasserstein, MP 2004, 'Lipid abnormalities in children with types A and B Niemann Pick disease', Journal of Pediatrics, vol. 145, no. 1, pp. 77-81. https://doi.org/10.1016/j.jpeds.2004.02.048
McGovern MM, Pohl-Worgall T, Deckelbaum RJ, Simpson W, Mendelson D, Desnick RJ et al. Lipid abnormalities in children with types A and B Niemann Pick disease. Journal of Pediatrics. 2004 Jul;145(1):77-81. https://doi.org/10.1016/j.jpeds.2004.02.048
McGovern, Margaret M. ; Pohl-Worgall, Tilla ; Deckelbaum, Richard J. ; Simpson, William ; Mendelson, David ; Desnick, Robert J. ; Schuchman, Edward H. ; Wasserstein, Melissa P. / Lipid abnormalities in children with types A and B Niemann Pick disease. In: Journal of Pediatrics. 2004 ; Vol. 145, No. 1. pp. 77-81.
@article{5da6d32c3b834034a4afdf6b7dcb5b44,
title = "Lipid abnormalities in children with types A and B Niemann Pick disease",
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.",
keywords = "Acid sphingomyelinase deficiency, Allele-specific oligonucleotide, ASM, ASO, BMI, Body mass index, ECG, Electrocardiographic, HDL-C, High-density lipoprotein cholesterol, LDL-C, Low-density lipoprotein cholesterol, Niemann Pick disease, NPD",
author = "McGovern, {Margaret M.} and Tilla Pohl-Worgall and Deckelbaum, {Richard J.} and William Simpson and David Mendelson and Desnick, {Robert J.} and Schuchman, {Edward H.} and Wasserstein, {Melissa P.}",
year = "2004",
month = "7",
doi = "10.1016/j.jpeds.2004.02.048",
language = "English (US)",
volume = "145",
pages = "77--81",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "1",

}

TY - JOUR

T1 - Lipid abnormalities in children with types A and B Niemann Pick disease

AU - McGovern, Margaret M.

AU - Pohl-Worgall, Tilla

AU - Deckelbaum, Richard J.

AU - Simpson, William

AU - Mendelson, David

AU - Desnick, Robert J.

AU - Schuchman, Edward H.

AU - Wasserstein, Melissa P.

PY - 2004/7

Y1 - 2004/7

N2 - 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.

AB - 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.

KW - Acid sphingomyelinase deficiency

KW - Allele-specific oligonucleotide

KW - ASM

KW - ASO

KW - BMI

KW - Body mass index

KW - ECG

KW - Electrocardiographic

KW - HDL-C

KW - High-density lipoprotein cholesterol

KW - LDL-C

KW - Low-density lipoprotein cholesterol

KW - Niemann Pick disease

KW - NPD

UR - http://www.scopus.com/inward/record.url?scp=3242707891&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3242707891&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2004.02.048

DO - 10.1016/j.jpeds.2004.02.048

M3 - Article

C2 - 15238911

AN - SCOPUS:3242707891

VL - 145

SP - 77

EP - 81

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 1

ER -