The diagnostic performance of the Italian Society for the Study of Atherosclerosis (SISA)-modified Dutch Lipid Clinic Network (DLCN) criteria in a pediatric cohort from LIPIGEN study population: preliminary data

Background. Familial hypercholesterolemia (FH) is a common and under-diagnosed autosomal dominant disorder associated with premature atherosclerotic cardiovascular disease (ASCVD). A strong association exists between elevated LDL-c levels and ath- erosclerosis, even in children. Early diagnosis and optimal FH-treatment is essential. The first step for FH diagnosis is the clinical valuation, although no international recommended clinical criteria exist yet. One of the main diagnostic tools includes the Dutch Lipid Clinic Network (DLCN) criteria. However, it is not validated in the pediatric population. Recently, the Italian Society for the Study of Atherosclerosis (SISA) proposed modified DLCN criteria adapted for patients younger than 18 years. Our aim was to compare the diagnostic performance of SISA-modified DLCN cri- teria with the European Society of Cardiology (ESC)-validated DL- CNs in a pediatric cohort of patients derived from the LIPIGEN study. Methods. We enrolled 82 consecutive children and adolescents [mean age 11±3 years old, 58% of male (n=48)], referred to the Li- pigen Center of Chieti and Rome, for clinical suspicion of FH. All the patients enrolled underwent the FH DNA-test. SISA-modified and ESC-validated DLCNs criteria were assessed prior the genetic analysis. The diagnostic performance of both scores was assessed and compared utilizing the receiver operating characteristics (ROC) curves. Results. The 65% of patients (n=53) were positive at the FH DNA- test for genetic mutations. The SISA-modified DLCNs showed bet- ter sensitivity than the ESC-validated DLCNs (53% vs. 21%, respec- tively), but less specificity (73% vs. 93%, respectively). When com- pared, no-statistical significance (P=0.68) was found between the two methods [AUC 0.65, 95% CI (0.52, 0.77) and AUC 0.63, 95% CI (0.52, 0.75), respectively]. Conclusions. The modified pediatric cut-offs proposed by SISA did not improve the diagnostic performance of DLCNs when com- pared with the ESC-validated DLCNs. Even if the SISA-modified DLCNs showed better sensitivity, the DLCNs by ESC showed higher specificity.