Correlation between Dutch lipid score and genetic diagnosis of FH in pediatric patients

Background and Aims: The Dutch Lipid Clinic Network Score (DLCNS) is a very useful score in guiding the clinician to the diagnosis of familial hy- percholesterolemia (FH). If this is true and proven by scientific evidence for adult patients, some doubts still remain concerning the pediatric age, with uncertainty about the possibility of dealing with the scores of the indi- vidual items of DLCNS in the same way as for the adult. Methods: We enrolled 17 pediatric patients under the age of 18 referred to our (Chieti and Rome) two centers for dyslipidemia due to the presence of familiarity for FH. We performed the genetic analysis for the search of pathogenetic mutations for FH (NGS by Lipid InCode, LIPIGEN Study) and we analyzed the correlation between DLCNS (according to the modified criteria of the LIPIGEN Study) and genetic diagnosis. Results: The genetic analysis confirmed pathogenetic mutations for FH in all patients (100%). The patients had a mean DLCNS of was 5,47, thus with only a limited probability (“possible” clinical diagnosis) of being affected by FH, as the DLCNS was less than 8 in most part of patients. Conclusions: Our results have shown no correlation between DLCNS and genetic diagnosis of FH. In light of this consideration it is desirable to revise the scoring system of DLCNS in pediatric patients.