Homozygous familial hypercholesterolemia (HoFH) is the rare form of familial hypercholesterolemia (FH) that impacts roughly 1 in 300,000 people in the United States and worldwide. Someone with HoFH has inherited one FH gene from each of their parents.
This condition typically leads to untreated LDL cholesterol levels between 400 mg/dL and 1000 mg/dL – sometimes even higher. If cholesterol this high remains untreated, people with HoFH are at risk of developing premature heart disease, and most can’t lower their LDL enough with one, two, or even three cholesterol-lowering medications.
In 2021, the Food and Drug Administration (FDA) approved evinacumab (Evkeeza) for LDL reduction for people with HoFH only. In 2023, it was approved for children with HoFH as young as 5 years old.
How does evinacumab work?
What makes evinacumab different, and particularly effective for HoFH patients, is that it does not require any functioning LDL receptors. This medication blocks the production of the protein called ANGPTL3 that helps circulate LDL.
Studies have shown that evinacumab reduces LDL, on average, by 49%. This, on top of other lipid lowering medications, has helped people with HoFH reach recommended LDL levels.
Evinacumab is given as an intravenous (IV) infusion once a month. The treatment is available for home infusion, at an infusion center, or hospital.