Screening, Diagnosis, Therapeutic Lifestyle Changes and Pharmacological Treatment in the Management of Heterozygous Familial Hypercholesterolemia in Children and Adolescents Ages 2-18
Baldwin, Mariya Vladimirovna
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Heterozygous familial hypercholesterolemia (heFH) is a dominantly inherited genetic disorder, resulting in transmission of the disease to 50% of the offspring of the parent with heFH (Descamps et aI., 2011). Occurring more commonly than cystic fibrosis, congenital hypothyroidism, Type 1 diabetes mellitus, Parkinson's and many other disorders, it affects 1 in 500 persons in the United States (O'Gorman, 2008). Children with heFH exhibit levels of low-density cholesterol from birth onwards; 2-3 times higher than in the general population. HeFH is associated with a high risk for premature coronary heart disease (>50% risk in men by age 50 and >30% in women by age 60) and shorter life expectancy (Goldberg et aI., 2011). Numerous research studies indicate that atherosclerotic process is reversible at its early stages with proper lifestyle changes and medication regimen. However, only approximately 20% of children and adolescents who have heFH are actually diagnosed with this disorder and, of those, "only a small minority receive appropriate treatment" (Goldberg et aI., 2011, p. S2). While the benefits, screening, diagnosis, and treatment are well defined in adults, until recently, a clear consensus did not exist for the management of children and adolescents with heFh. The purpose of this paper is to review and summarize the most current evidence-based research findings and guidelines on screening, diagnosis, and management of children and adolescents (ages 2-18) with heFH.