GENERAL CHARACTERISTICS OF PATIENTS WITH HOMOZYGOUS FORM OF FAMILIAL HYPERCHOLESTEROLAEMIA IN THE CZECH REPUBLIC

Aim: Aim of project was to define general characteristics of patients with homozygous form of familial hypercholesterolaemia in the Czech Republic. Methods: Set of hoFH patients has 19 patients, including 5 ceased. Patients were selected by the genetic testing or phenotypic criteria for hoFH. Data were extracted from the Czech national FH registry (MedPed). Results: Median of age at diagnosis was 30,0; R(7-63) years. Baseline total cholesterol (T-C) level had median 12.85; R(6.4-22.8)mmol/l and LDL-cholesterol (LDL-C) 10.27; R(4.29-21.26)mmol/l. 18 homozygotes were confirmed by genotyping – 77.8% of patients had LDLR/LDLR mutation and 22.2% had apoB/apoB mutation. All of the patients with apoB mutation are true homozygotes, while only 4 patients with LDLR mutation were true homozygotes and 10 patients were compound heterozygotes. There were no double heterozygotes. Premature atherosclerotic vascular disease was diagnosed in 74%, xanthomas in 37%, arcus lipoides corneae in 11% and xanthelasma in 16% cases. 5 patients died, median age of death was 45; R(32-68) years. All patients were treated with statins, 93% had a statin-ezetimibe combination, 50% were on triple therapy with PCSK9-i, 5 patients had regular LDL-apheresis. Median of on-treatment LDL-C was 3.64; R(1.04-6.03)mmol/l. Patients with LDLR/LDLR mutation compared to apoB/apoB homozygotes have better on-treatment levels of LDL-C and T-C, even though the baseline LDL-C and T-C levels were higher. 33% patients reached LDL-C targets. Conclusions: Our study demonstrated important clinical and laboratory differences between LDLR and apoB FH homozygous individuals including target values attainment variability.