ABSTRACT
<p><b>OBJECTIVE</b>Familial hypercholesterolemia (FH) is an autosomal dominant disease with an estimated worldwide prevalence of 0.2%. It is caused by a multitude of low density lipoprotein receptor gene mutations. It is characterized with high levels of total cholesterol (TC), low density lipoprotein cholesterol (LDL-C) and a high incidence of coronary artery disease in young adults. Cord blood cholesterol concentration is used for mass screening of FH. The purpose of this study was to detect the lipid levels of cord blood in newborn infants from China and to determine the cut-off point after 1 to 2 years follow-up.</p><p><b>METHODS</b>TC, triglycerides (TG), LDL-C and high density lipoprotein cholesterol (HDL-C) were determined in 242 healthy full-term newborn infants.</p><p><b>RESULTS</b>The mean values of TC, TG, LDL-C and HDL-C in cord blood were (1.69 +/- 0.40) mmol/L, (0.23 +/- 0.12) mmol/L, (0.81 +/- 0.21) mmol/L and (0.58 +/- 0.16) mmol/L (mean +/- standard deviation), respectively. The HDL-C concentration in male neonates was lower than that in female neonates (P < 0.05).</p><p><b>CONCLUSION</b>After the follow-up of 1 to 2 years for FH, the recommended screening cut-off points were TC > or = 2.47 mmol/L and LDL-C > or = 0.89 mmol/L.</p>