Abstract
Familial hypercholesterolaemia (FH) is the most frequent AD hereditary disease, leading to higher levels of total cholesterol andLDL-cholesterol (LDL-C). We distinguish two forms of this disease, heterozygous and rare homozygous.
This disease could belongterm asymptomatic and CVD manifestation (the most frequently ischemic heart disease) is often the first sign and it comessooner than in common population. Diagnostic milestone is anamnesis (especially family and personal) and thorough physicalexamination.
By scoring systems we can classify probability of FH, Dutch Lipid Clinic Network Criteria is mostly used in the CzechRepublic. In case of FH suspiction, patient has to be send in specialized centre of MedPed network (Make Early Diagnoses to PreventEarly Deaths in MEDical PEDigrees).
First-choice drugs are statins, we prefer newer generations with long half-life effect suchas atorvastatin or rosuvastatin. We add ezetimibe in the case of insufficient effect of maximal statin dosage or statin intolerancy.Essential breakthrough in treatment of FH is a biological therapy.
Nowadays the most discussed member of this group are PCSK9inhibitors, which can reduce LDL-C more than 60 %.