Prevalence, diagnosis, and treatment of familial hypercholesterolaemia in outpatient practices in Poland.

Abstract

Familial hypercholesterolaemia (FH) is the most common genetic disease leading to premature atherosclerosis. The aim of the study was to evaluate the prevalence, diagnosis, and treatment of FH in outpatient practices in Poland. The study included a representative sample of 147 primary care physicians, cardiologists, and diabetologists caring for 2812 adult patients with hypercholesterolaemia and low-density lipoprotein cholesterol (LDL-C) level > 1.8 mmol/L, who were treated with statins or did not receive statins due to intolerance or contraindications. The physicians declared whether they diagnosed FH in the study group. In addition, we evaluated the Dutch Lipid Clinic Network (DLCN) diagnostic criteria for FH in all patients. The results were weighted and extrapolated to the general outpatient population in Poland. Treatment and its effectiveness were also evaluated. FH6+ score by the DLCN criteria was found in 3.6% of the study group, which translates by extrapolation to 136,300 adult patients with FH in Poland. Among patients with FH6+, this diagnosis was correctly made by physicians in 25% of cases and was not established in 75% of cases. Only 32.8% of patients received high statin doses. High LDL-C levels were found in a large proportion of patients, including levels ≥ 5.0 mmol/L in 42.7% of patients and ≥ 4.1 mmol/L in 59.7% of patients. Familial hypercholesterolaemia is inadequately diagnosed and treated in Poland, which calls for a radical im-provement of pre- and postgraduate education in this regard.