Open AccessHomozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment
Author(s) -
В. К. Зафираки,
Е. Д. Космачева,
И. Н. Захарова,
В. А. Корнева,
А. В. Сусеков
Publication year - 2018
Publication title -
medicinskij sovet
Language(s) - English
Resource type - Journals
eISSN - 2658-5790
pISSN - 2079-701X
DOI - 10.21518/2079-701x-2018-17-253-259
Subject(s) - familial hypercholesterolemia , pathogenesis , medicine , disease , cholesterol
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.