Background. Familial hypercholesterolemia (FH) is a common, under-diagnosed, genetic cause of premature atherosclerotic car- diovascular disease (ASCVD). So far, no international recommend- ed clinical criteria for FH exist and the Dutch Lipid Clinic Network (DLCN) criteria are not validated in pediatric population. On the other hand, both UK Simon Broome Register Group (SB) and US MedPed Program criteria have specific LDL-c levels cut-off for pediatrics. Our aim was to compare the diagnostic performance of DLCN criteria to the SB and the US MedPed Program ones, in a pediatric cohort derived from the LIPIGEN study. Methods. We enrolled 52 consecutive children and adolescents [mean age 10.8±3.2 years old, 65% of male (n=34)], referred to the LIPIGEN Centers of Chieti and Rome, for clinical suspicion of FH. All the patients enrolled underwent the FH DNA-testing. As DL- NCs is a point score, the clinical diagnosis of FH was considered “likely” for patients who achieved a DLCN score ≥6 and “unlikely” for who achieved a DLCN score <6. Participants with FH-likely di- agnosis as for DLCNs were compared to the ones who showed a high probability of carrying a FH mutation with SB and MedPed criteria. The diagnostic performance of the three scores was as- sessed and compared utilizing the receiver operating characteris- tics (ROC) curves. Results. The 63% of patients (n=33) were positive at the FH DNA- test for genetic mutations. The SB score showed the best diagnos- tic performance [sensitivity 51.51%, specificity 94.74%; AUC 0.73, 95% CI (0.63, 0.83), p=0.0017)] as compared to both DLCN [sensi- tivity 24.24%, specificity 94.74%, AUC 0.59, 95% CI (0.50, 0.68)] and MedPed scores [sensitivity 48.48%, specificity 89.47%, AUC 0.69, 95% CI (0.57, 0.80)]. Conclusions. In our cohort, the SB criteria demonstrated the best performance for FH diagnosis; however, no one of the three scores showed to improve the clinical detection of FH in pediatrics.
Comparison between Dutch Lipid Clinic Network (DLCN) criteria, Simon Broome register group (SB) and US MedPed Program diagnostic performance in a pediatric cohort from LIPIGEN study population: preliminary data.
Bianco F;D’Ardes D;Rossi I;Boccatonda A;Cipollone F;Bucci M.
2020-01-01
Abstract
Background. Familial hypercholesterolemia (FH) is a common, under-diagnosed, genetic cause of premature atherosclerotic car- diovascular disease (ASCVD). So far, no international recommend- ed clinical criteria for FH exist and the Dutch Lipid Clinic Network (DLCN) criteria are not validated in pediatric population. On the other hand, both UK Simon Broome Register Group (SB) and US MedPed Program criteria have specific LDL-c levels cut-off for pediatrics. Our aim was to compare the diagnostic performance of DLCN criteria to the SB and the US MedPed Program ones, in a pediatric cohort derived from the LIPIGEN study. Methods. We enrolled 52 consecutive children and adolescents [mean age 10.8±3.2 years old, 65% of male (n=34)], referred to the LIPIGEN Centers of Chieti and Rome, for clinical suspicion of FH. All the patients enrolled underwent the FH DNA-testing. As DL- NCs is a point score, the clinical diagnosis of FH was considered “likely” for patients who achieved a DLCN score ≥6 and “unlikely” for who achieved a DLCN score <6. Participants with FH-likely di- agnosis as for DLCNs were compared to the ones who showed a high probability of carrying a FH mutation with SB and MedPed criteria. The diagnostic performance of the three scores was as- sessed and compared utilizing the receiver operating characteris- tics (ROC) curves. Results. The 63% of patients (n=33) were positive at the FH DNA- test for genetic mutations. The SB score showed the best diagnos- tic performance [sensitivity 51.51%, specificity 94.74%; AUC 0.73, 95% CI (0.63, 0.83), p=0.0017)] as compared to both DLCN [sensi- tivity 24.24%, specificity 94.74%, AUC 0.59, 95% CI (0.50, 0.68)] and MedPed scores [sensitivity 48.48%, specificity 89.47%, AUC 0.69, 95% CI (0.57, 0.80)]. Conclusions. In our cohort, the SB criteria demonstrated the best performance for FH diagnosis; however, no one of the three scores showed to improve the clinical detection of FH in pediatrics.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
