281 - Diagnostic criteria for familial hypercholesterolemia in children (ID 559)
Abstract
Background and Aims
The identification and treatment of familial hypercholesterolemia (FH) since childhood can improve the prognosis, reducing the associated cardiovascular mortality. The aim of the study was to evaluate the effectiveness of the Simon Broome Register (SBR), LIPIGEN and Dutch Lipid Clinic Network (DLCN) criteria in predicting the correct FH diagnosis.
Methods
We retrospectively evaluated 159 patients (mean age 8.7 ± 4.15 years) with clinical diagnosis of FH based on the following criteria: LDL-C ≥95° age- and sex-related percentile plus baseline LDL-C ≥190 mg/dl in one parent (±pCHD), grandparent/family history of dominant hypercholesterolemia and/or pCHD. Molecular analysis of genes related to FH (LDLR, APOB, PCSK9) was performed and SBR, LIPIGEN and DLCN criteria were retrospectively applied to patients. Sensibility and specificity of the scores were calculated.
Results
Among the 159 patients undergoing molecular investigations, 140 showed causative mutations, while the molecular analysis was negative on 19 subjects (mutation detection rate 88%). The use of SBR, LIPIGEN and DLCN criteria as discriminant for molecular testing would have led to a loss of 25.7%, 27.1% and 40.7% of mutated patients, respectively (SBR non applicable, LIPIGEN and DLNS possible and unlikely).
Conclusions
In the paediatric population, SBR, LIPIGEN and DLN criteria underestimate the number of patients with FH and cannot be considered discriminant for the execution of molecular diagnosis.
