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Theory and Practice in Medicine, 2016, 22 tomas No. 5

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Sandra Kutkienė, Žaneta Petrulionienė, Rolandas Sausdravas, Ieva Šarapnickienė, Marija Petrylaitė, Irma Rutkauskienė, Urtė Gargalskaitė, Milda Kovaitė, Egidija Rinkūnienė, Vilma Dženkevičiūtė, Vytautas Kasiulevičius

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Key words: familial hypercholesterolemia, diagnostics, treatment.
Cardiovascular diseases are the most common cause of death. It is about 30 % of deaths in the world. The most frequent type of dyslipidemia is hypercholesterolemia – a multifactor disorder caused by genetic and environmental factors. One of the most important type of hypercholesterolemia caused by genetic mutations is familial hypercholesterolemia. Significant number of patients with familial hypercholesterolemia do not have any complains even when cardiovascular disease is progressing rapidly, therefore complications are the main challenge of effective familial hypercholesterolemia treatment. Literature analysis shows that effective management of familial hypercholesterolemia consists of adequate treatment and primary prevention. This disease matches all screening criteria raised by World Health Organization while international guidelines suggest several screening strategies of which the most important and the most cost-effective is cascade screening of family members of the index case. In case of an effective treatment, risk factors should be modified and drug therapy should be started with statins and ezetemibe. If target concentrations of low-density lipoproteins is not reached, new generation drugs (PCSK9 inhibitors, lomitapide, mipomersen) should be added. In this literature analysis the connection between familial hypercholesterolemia and cardiovascular diseases along with effective treatment options will be discussed.

DOI: 10.15591/mtp.2016.072
Submited: November 30, 2016
Accepted: December 19, 2016
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