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

Objective To characterize the lipid profiles inpatients 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 DeltaR608 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.