James Underberg, MD, Clinical Assistant Professor of Medicine at NYU Medical School, reviews the treatment options for homozygous familial hypercholesterolemia (HoFH).

HoFH is a rare genetic disorder that leads to extremely high levels of cholesterol (i.e., > 400 mg/dL or 10mmol/L) that is very difficult to control with standard lipid lowering strategies.

As Dr. Underberg explains, most standard therapies for lowering lipid levels are only partially effective in these patients. 

Currently, evolocumab and lomitapide are approved to treat HoFH patients. The U.S. Food and Drug Administration (FDA) is expected to make a decision about a third drug, evinacumab, very shortly.

Evolocumab is a PCSK9 Inhibitor that is approved to treat both HoFH and heterozygous FH. It is most effective in treating HoFH patients who have some residual levels of LDL receptors, according to Dr. Underberg.

Lomitapide is a microsomal triglyceride transfer protein (MTP) inhibitor that is approved to treat HoFH. 

Evinacumab is an ANGPTL3 antibody currently under review by the FDA with a PDUFA date set for February 11, 2021. As Dr. Underberg explains, the clinical data for this new medication is fairly impressive with patients showing a 50% reduction in cholesterol levels. 

For more information about this and other rare cardiovascular disorders, visit checkrare.com/diseases/heart-diseases/