Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment

Abstract

Dysbetalipoproteinemia is a congenital disorder of lipoprotein metabolism, characterized by high cholesterol (CH) and triglyceride (TG) levels. The underlying cause of this disease is the defect of the gene providing for apolipoprotein E.

It is clinically manifested by xanthomatosis, however primarily by an early manifestation of atherosclerosis (rather peripheral than coronary).

Keywords

• Lipoprotein lipase dificiency
• dysbetalipoproteinemia
• familial hypercholesterolemia
• gene therapy
• PCSK9 inhibitors