Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

Abstract

Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life, resulting to premature death due to atherosclerosis-related diseases. Modern combined lipid-lowering therapy is able to increase life duration considerably for these patients.

Keywords

• homozygous familial hypercholesterolemia
• atherosclerosis
• lipid-lowering therapy