Pediatria pre prax 2/2016

Homozygotná familiárna hypercholesterolémia a jej liečba, skríning cholesterolu v detskom veku na Slovensku

MUDr. Pavol Šimurka, PhD., MUDr. Martin Matejka, PhD., MUDr. Jana Malinová

Od roku 2004 sa na Slovensku realizuje v rámci preventívnych prehliadok u všeobecných lekárov pre deti a dorast univerzálny, plošný skríning celkového cholesterolu plne hradený zdravotnými poisťovňami podľa metodického pokynu MZ SR na primárnu prevenciu srdcovo-cievnych ochorení u detí. Od roku 2004 doteraz malo vyšetrenú hladinu celkového cholesterolu v rámci preventívnych prehliadok u všeobecných lekárov pre deti a dorast v 11. a 17. roku života viac ako 900 000 detí. Je reálne očakávať identifikáciu jedinca s homozygotnou formou familiárnej hypercholesterolémie. Významný pokrok v liečbe tejto závažnej formy hypercholesterolémie umožňuje zmenu v kvalite života pacienta.

Kľúčové slová: hyperlipoproteinémie, familiárna hypercholesterolémia, homozygotná familiárna hypercholesterolémia, LDL cholesterol, inhibítory PCSK9, lomitapid, mipomersen

Homozygous familial hypercholesterolemia and its treatment, cholesterol screening in children in Slovakia

Since 2004 the universal screening of total cholesterol has been carried out within the preventive medical check-ups by the general practitioners for children and adolescents in Slovakia. All children are tested and this test is fully covered by all health insurance companies (the guideline for the primary prevention of cardiovascular disease in children, the Ministry of Health Care of the SR). Since 2004 until now over 900.000 children in their 11th and 17th year of life have been examined for the total cholesterol within the preventive medical check-ups at the general practitioners for children and adolescents. It is realistic to expect the identification of an individual with homozygous familial hypercholesterolemia. The significant progress in the treatment of such serious form of hypercholesterolemia enables the change in the quality of life of the patient.

Keywords: hypolipoproteinemia, familial hypercholesterolemia, homozygote familial hypercholesterolemia, LDL cholesterol, inhibitor PCSK9, lomitapid, mipomersen