Familial hypercholesterolemia in pediatric practice

Familial hypercholesterolemia (FH) is a hereditary disease characterized by elevated levels of low-density lipoproteins, early onset and progressive course of atherosclerosis (usually at a young age), and high risk of cardiovascular complications. Detection of mutations in family members enables the diagnosis of FH. However, approximately 20% of FH patients are tested negative for the FH-associated mutations. This results in a delayed diagnosis and late therapy initiation, especially in children. Therefore, raising awareness about FH both among healthcare professionals and in the society is very important. Key words: children, lipid-lowering therapy, familial hypercholesterolemia, screening, registry