Familial heterozygous hypercholesterolemia: a case report

Іntroduction: Familial hypercholesterolemia (FH) is an autosomal dominant disorder, caused by the defect of the gene, encoding the structure and function of the receptor for the apoprotein B/E. Patients with FH are predisposed to premature development of atherosclerosis and clinically manifested forms of cardiovascular diseases, in particular coronary heart disease (CHD). The aim of our article is informing the general practitioners about the diagnosis and management of patients with familial heterozygous hypercholesterolemia.

Materials and methods: The data of domestic and foreign literature were analyzed. The case report of familial heterozygous hypercholesterolemia (FHH) was present in this article. Diagnostic criteria, current approaches to the management of patients with hereditary disorders of lipid metabolism are considered.

Conclusions: Familial heterozygous hypercholesterolemia is one of the most common genetic disorders, but this pathology is not well-known to practitioners and is often underdiagnosed. Early diagnosis and aggressive contemporary hypolipidemic therapy is crucial for patients with signs of hereditary lipid disorders.