Pediatria pre prax 2/2016

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