Prakt. lékáren. 2019; 15(3): 134-139
New options in diagnostics and treatment of familial hypercholesterolemia
- 3. interní klinika – klinika endokrinologie a metabolismu 1. LF UK a VFN v Praze
Familial hypercholesterolaemia (FH) is the most frequent AD hereditary disease, leading to higher levels of total 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 (the most frequently ischemic heart disease) is often the first sign and it comes sooner than 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 generations with long half-life effect such as 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 PCSK9 inhibitors, which can reduce LDL-C more than 60 %.
Keywords: familial hypercholesterolemia, hypolipidemic therapy, statins, ezetimib, PCSK9 inhibitors, LDL-apheresis, MedPed
Published: October 10, 2019 Show citation
