Molecular genetic diagnosis of a heterozygous form of familial hypercholesterolemia at a young age: a clinical case

Abstract

Patients with familial hypercholesterolemia should be monitored throughout life, starting at an early age, since high levels of low-density lipoprotein cholesterol from birth and its cumulative effect play a significant role in the early development of complications of the atherosclerotic process. A clinical case of familial heterozygous hypercholesterolemia, first diagnosed in a patient at the age of 16, is described. As part of the cascade screening, the patient’s parents were examined. A molecular genetic study of DNA revealed the substitution rs879254721 NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) in the LDLR gene in the proband and in the proband’s mother in the heterozygous variant. Regardless of the availability of molecular genetic testing, all families with familial hypercholesterolemia require ongoing lifelong follow-up and focused clinical evaluation.

Keywords

• familial hypercholesterolemia
• low-density lipoprotein receptor gene
• rs879254721