Primary care providers-initiated screening for familial hypercholesterolemia: a model proposed based on the Kordian primary prevention program for cardiovascular diseases

INTRODUCTION: Familial hypercholesterolemia (FH) is a group of monogenic disorders causing high LDL levels and early cardiovascular diseases (CVD). OBJECTIVES: We present a PCP-initiated FH screening model at University Hospital in Krakow as part of the Kordian CVD prevention program. PATIENTS AND METHODS: Patients without a prior diagnosis of any chronic disease, including CVD, and who had not taken any medications were selected by PCPs as eligible to participate. The study, conducted from 2019 to 2023, involved 4018 patients. From this group, 378 patients (9.4% of the study population) with CVD risk factors were referred by PCPs to the Department of Cardiology for further assessment. RESULTS: Overall, 125 patients (33.1% referred to the Department of Cardiology), including 51 men and 74 women, met the clinical criteria and underwent genetic testing for FH. The mean age was 46.2 years (SD 13.1). Individuals with confirmed pathogenic heterozygous FH mutations accounted for 45.6% (n = 57) of the population selected for genetic testing. Patients with genetically confirmed FH were notably younger (median 41.0 vs 49.0 years, P = 0.002), and had a lower BMI (mean 24.59 vs 27.22 kg/m2, P = 0.009) than those without a genetic diagnosis. Twice as many patients with confirmed FH had relatives with native LDL levels exceeding 190 mmol/l (71.9% vs 27.9%, P <0.001). This factor increased the risk of FH by more than 11 times. CONCLUSIONS: Collaboration between PCPs and specialists with access to genetic testing, guided by a well-designed algorithm, may.