When a child presents to his or her pediatrician, the pediatric evaluation should include a lipid test. If the LDL cholesterol from a fasting lipid profile is >160 mg/dL then the pediatrician should recognize that this is consistent with FH. Another measure is non-HDL cholesterol, which is obtained by subtracting the HDL cholesterol level from the total cholesterol, and if the non-HDL cholesterol is >145 mg/dL, then a full fasting lipid profile should be ordered to determine the LDL cholesterol.
After a history and physical examination, laboratory studies should be ordered because it is important to exclude secondary hypercholesterolemia, particularly hypothyroidism and nephrotic syndrome. A brief period of diet intervention should be tried, followed by a repeat lipid profile to confirm the diagnosis of acquired (environmental, behavioral) or inherited (FH) dyslipidemia. This will mean performing 2 lipid profiles – a screening test, followed by dietary intervention and then a follow-up lipid profile – before arriving at a proper differential diagnosis of FH and embarking on treatment. Finally, it is extremely important to identify other cardiac risk factors, so that the appropriate degree and intensification of risk and treatment can be identified in any individual patient. J Clin Lipidol. 2011; 5(6).
