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.
N1 - Funding Information:
Supported by a grant (5-MO1-RR00071) for the Mount Sinai General Clinical Research Center from the National Center for Research Resources, by NIH research grant HD-28607 (E. S.), and by a research grant from the Genzyme Corporation. M. W. is the recipient of a Mentored Patient-Oriented Research Career Development Award (K23-RR16052-01) from the National Institutes of Health (NIH). M. M. M. is supported by grant R25-HG0011. R. J. D. is supported by NIH grants HL-40404 and HL-56984. T. S. W. is supported by a grant-in-aid awarded by the American Heart Association (0255656N).
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 - ASM
KW - ASO
KW - Acid sphingomyelinase deficiency
KW - Allele-specific oligonucleotide
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 - NPD
KW - Niemann Pick disease
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U2 - 10.1016/j.jpeds.2004.02.048
DO - 10.1016/j.jpeds.2004.02.048
M3 - Article
C2 - 15238911
AN - SCOPUS:3242707891
SN - 0022-3476
VL - 145
SP - 77
EP - 81
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 1
ER -