Homozygous Familial Hypercholesterolemia (HOFH)

Homozygous Familial Hypercholesterolemia, also known as hofh, is related to hyperlipoproteinemia, type iii and hypolipoproteinemia. An important gene associated with Homozygous Familial Hypercholesterolemia is LDLR (Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Metabolism of water-soluble vitamins and cofactors. The drugs Evolocumab and PCSK9 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are increased ldl cholesterol concentration and hyperlipidemia