How can we improve the prognosis of the patients with homozygous familial hypercholesterolemia?

Familial hypercholesterolemia (FH) is a genetic disease that has high low-density lipoprotein-cholesterol (LDL-C) levels from birth due to mutations in genes related to LDL receptor pathway such as LDLR, PCSK9, APOB and LDLRAP11. Heterozygous FH (HeFH) patients carry the mutated gene in a single allele, having LDL-C levels twice or higher than normal. Having mutations in both alleles, homozygous FH (HoFH) show LDL-C levels twice or higher than HeFH2. Long-lasting hyperLDL-Cemia causes atherosclerotic cardiovascular disease (ASCVD) in FH patients.
Source: Atherosclerosis - Category: Cardiology Authors: Source Type: research