Résumé
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by elevated levels of low-density lipoprotein (LDL) cholesterol in the blood. Lifetime exposure to high LDL cholesterol levels significantly increases the risk of cardiovascular disease, depending on the LDL cholesterol levels and the years of exposure. The primary causes of FH are pathogenic variants in the LDLR gene, which codes for the LDL receptor; the APOB gene, responsible for the binding of LDL to their receptor; or the PCSK9 gene, which codes for the Proprotein Convertase Subtilisin/Kexin type 9, facilitating lysosomal degradation of LDL receptors. We evaluated the results from 2019 to 2022 of patients who underwent genetic analysis in our laboratory. We considered DLCN scores, LDL-C values, personal and family histories to determine if there was a significant correlation between the clinical presentation and the presence or absence of mutations among these patients. Genetic analysis of these patients showed that 30% of them had heterozygous variants in the major LDLR, APOB, PCSK9 genes. The most reliable indicators were LDL-C levels and the presence of tendon xanthomas and corneal arcus. DLCN scores demonstrated relatively low predictive ability for mutation detection, and personal and family history were not useful for diagnosis.