Homozygous familial hypercholesterolemia (HoFH) is a rare form of familial hypercholesterolemia, an autosomal-dominant genetic disorder of lipid metabolism characterized by strikingly elevated levels of low-density lipoprotein cholesterol (LDL-C).
Heterozygous Familial Hypercholesterolemia vs. Homozygous Familial Hypercholesterolemia
Heterozygous familial hypercholesterolemia individuals inherit one mutated copy of the LDL receptor gene from one parent and one normal copy from the other parent. This means they have one faulty gene and one functional gene resulting in a less severe form. While most people suffer from HeFH, in rare cases, the mutations in bo...
