Genetics and pharmacogenetics of familial hypercholesterolemia in Serbia

Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects low-density lipoprotein cholesterol (LDL-C) metabolism. FH is an underdiagnosed disorder in Serbia. It is estimated that up to 20% of patients are recognized, while there are no genetically confirmed FH cases. FH is characterized by a lifelong increase in LDL-C and, if untreated, leads to early atherosclerosis and an increased risk of cardiovascular events, with a possible fatal outcome. Timely pharmacological interventions can significantly reduce the risk of morbidity and mortality. Most patients with FH are treated with various doses of statins. The main goal of this multicenter, epidemiological and clinical study is to detect causal variants in genes in clinically diagnosed patients with FH, leading to a timely diagnosis. Determining the most common genetic variants in patients with FH in Serbia will enable the development of a population-specific diagnostic panel for FH. The second goal is to determine the genetic basis of statin intolerance in the Serbian population in order to achieve personalized therapy.