A rare genetic mutation in patients with heterozygous familial hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is a rare disease, although its occurrence according to the Russian by FH register higher than previously thought. Often this pathology is not revealed during the examination of patients, due to poor awareness of physicians. Diagnosis is based on a certain phenotype and genetic studies. This article describes a clinical case of heterozygous FH patient without clinical manifestations, diagnosed on the basis of screening. This patient was found a rare mutation in the APOB gene.