Abstract
Familial hypercholesterolemia is a disease endangering health and lives of a large group of Czech citizens. Up to now accepted uniform clinical definition of the disease has been replaced by a few entities with similar phenotype but different genetic backround as revealed by molecular- genetic research.
Moreover, the disease, though considered strictly monogenic, is in fact determined by an interplay of more genes as most of the metabolic disorders. These new observations do put the clinical diagnosis to question.
However, molecular-genetic diagnostic criteria appear to be not only interesting but also useful and needed information in the future.