Modern strategy of diagnosis and treatment of children with heterozygous familial hypercholesterolemia

Familial heterozygous hypercholesterolemia Is an autosomal dominant disease characterized by high levels of low-density lipoprotein cholesterol, leading to an atherosclerotic vascular damage in children and myocardial infarction in 20 -30 years-old individuals. Familial hypercholesterolemia remains a little-known disease in the pediatric clinical practice, and it is characterized by late diagnosis and start of therapy. The disease is characterized by asymptomatic course for a long time, and therefore it is diagnosed in less than 1% of cases. The authors present genetic aspects of the disease. They describe the diagnostic criteria of familial heterozygous hypercholesterolemia in children and various screening options. They consider the possibilities of early diagnosis of vascular lesions of atherosclerotic origin. The authors describe the strategy of managing patients with familial heterozygous hypercholesterolemia and various options of non-drug and drug therapy. They provide indications, effectiveness and safety of statins as the main class of drugs for the treatment of the disease.

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