Praktické lekárnictvo 2/2018
Dyslipidémie ako rizikový faktor kardiovaskulárnych ochorení: dôraz na familiárnu hypercholesterolémiu, jej včasnú diagnostiku a terapiu
Dyslipidaemias as a risk factor for cardiovascular disease: emphasis on familial hypercholesterolemia, its early diagnosis and therapy Dyslipidaemias are metabolic disorders and abnormalities in cholesterol metabolism – hypercholesterolaemias – are the most important risk factors for ischemic heart disease. Familiar hypercholesterolaemia is a genetic autosomal dominant disorder caused by various mutations in low-density lipoprotein receptor (LDLR) gene. In Slovakia, there are about 10 000 of patients with familiar hypercholesterolemia. Depending on the particular mutation in LDLR, what may result in 5 – 6 times increase in cholesterol levels, myocardial infarction can occur earlier in life. Although modification of risk factors associated with life-style are also implicated in therapy of dyslipidaemias, this nonpharmacological approach in the management of familiar hypercholesterolaemia is mainly appreciated with respect to reduction of doses of hypolipidaemic drugs used to achieve the target levels of lipids in the plasma. For the treatment of familiar hypercholesterolaemia, statins, inhibitors of cholesterol absorption (ezetimibe), and PCSK9 inhibitors are used, mainly as a combination therapy. Bile acid sequestrants are used rarely. For homozygous patients or heterozygous nonresponsive to drug therapy, special forms of pharmacotherapy, such as plasmepheresis, LDL apheresis, etc. are applied.
Keywords: dyslispidaemias, familiar hypercholesterolaemia, therapy of dyslispidaemias
