New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia

Abstract

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified. Complications of atherosclerotic cardiovascular disease are common in these patients; therefore, reducing the elevated LDL-cholesterol burden is critical in their management. Conventionally, this is achieved by patients initiating lipid-lowering therapy, but this can present challenges in clinical practice. Fortunately, novel therapeutic strategies have enabled promising innovations in HoFH treatment. This review highlights recent and ongoing studies examining new therapeutic options for patients with HoFH.

Keywords: Angiopoietin-like 3; Gene therapy; Gene-editing; Homozygous familial hypercholesterolemia; Inclisiran; Lomitapide; Low-density lipoprotein cholesterol; PCSK9.