Via practica 3/2019
New options in diagnostics and treatment of familial hypercholesterolemia
Familial hypercholesterolaemia (FH)is themostfrequentADhereditary disease, leading to higherlevels oftotal cholesterol and LDL-cholesterol(LDL-C). We distinguish two forms of this disease, heterozygous and rare homozygous. This disease could be longterm asymptomatic and CVD manifestation (themostfrequently ischemic heart disease)is often the first sign and it comes soonerthan in common population. Diagnostic milestone is anamnesis (especially family and personal) and thorough physical examination. By scoring systems we can classify probability of FH, Dutch Lipid Clinic Network Criteria is mostly used in the Czech Republic. In case of FH suspiction, patient has to be send in specialized centre of MedPed network (Make Early Diagnoses to Prevent Early Deaths in MEDical PEDigrees). First-choice drugs are statins,we prefer newer generationswith long half-life effect such as atorvastatin orrosuvastatin.We add ezetimibe in the case ofinsufficient effect ofmaximal statin dosage or statin intolerancy. Essential breakthrough in treatment of FHis a biologicaltherapy.Nowadays themost discussedmember ofthis group arePCSK9 inhibitors,which can reduce LDL-Cmore than 60 %.
Keywords: familial hypercholesterolemia, hypolipidemic therapy, statins, ezetimib, PCSK9 inhibitors, LDL-apheresis, MedPed
