Creating a predictive model for the probability of a patient having familial hypercholesterolemia

The results of a study aimed at developing a prognostic model for identifying familial hypercholesterolemia (FH), the most common monogenic lipid metabolism disorder, are presented. A comprehensive clinical and genetic analysis was performed on a sample of 466 patients. It was demonstrated that a combined assessment of low-density lipoprotein (LDL) levels and the atherogenic index allows for a highly accurate prediction of a molecularly confirmed diagnosis of FH. Based on the developed model, an online calculator was developed and implemented for cardiologists and geneticists to optimize the diagnostic pathway and patient selection for genetic testing. The proposed tool demonstrates high sensitivity and specificity in both children and adults.

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