A Clinical Case of Heterozygous Familial Hypercholesterolemia in a 14-Year-Old Girl

Familial hypercholesterolemia is one of the most common inborn metabolic disorders caused by a genetic defect, characterized by elevated plasma levels of total cholesterol and low-density lipoproteins.

Clinically, it manifests as early development of atherosclerotic lesions in the major vessels and the onset of cardiovascular disease at a young age.

This article describes a clinical case of a patient with heterozygous hypercholesterolemia diagnosed through opportunistic screening by lipid profile testing. The time to diagnosis was 1 year. No phenotypic manifestations of the disease were observed. Molecular genetic testing revealed a heterozygous mutation in exon 3 of the LDLR gene (chr19:11102719C>A), leading to a premature termination codon NM_000527.5:c.246C>A, p.(Cys82Ter), which is registered as pathogenic. Diet therapy and drug treatment made it possible to achieve target levels of total cholesterol and low-density lipoproteins (<3.3 mmol/L). Early diagnosis of heterozygous familial hypercholesterolemia, along with a combination of non-pharmacological and pharmacological interventions for correcting lipid metabolism disorders, serves as prevention of the atherosclerotic process in children. Regardless of the availability of molecular genetic testing, all family members of a patient with familial hypercholesterolemia and their relatives require lifelong monitoring and targeted clinical examination.

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