FH Treatments

A Treatment for Homozygous Familial Hypercholesterolemia (HoFH)

Homozygous familial hypercholesterolemia (HoFH) is a rare form of familial hypercholesterolemia (FH). It 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 (LDL) 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. Most individuals with HoFH can’t lower their LDL enough with one, two, or even three cholesterol lowering medications.

HoFH and LDL Receptors

As new medications have been developed, people with HoFH have incrementally improved their LDL. Existing treatments like statins, ezetimibe, and PCSK9 inhibitors have one thing in common – they increase the number of LDL receptors (LDLRs) a person has on their liver and other cells. The more LDLRs a person has, the more efficiently they remove LDL from their blood. This effectively lowers their LDL levels.

The problem is that most people with HoFH have dysfunctional or non-functioning LDLRs. As a result, these individuals don’t respond well enough to these medications.

A Treatment for Homozygous Familial Hypercholesterolemia

Enter evinacumab (Evkeeza). This treatment was approved by the Food and Drug Administration (FDA) in 2021 for LDL reduction in people with HoFH aged 12 and over.

What’s important to know about evinacumab is that it doesn’t require functioning LDLRs. It removes very low-density lipoprotein (VLDL) from the blood. Normally, VLDL converts to LDL so when the VLDL is removed from the blood, less LDL is produced.

Studies have shown that evinacumab reduces LDL, on average, by 49%. This, on top of other lipid lowering medications, has helped people with HoFH normalize their LDL levels.

Evkeeza Evinacumab

How to use evinacumab

EvinacumabEvinacumab is given as an intravenous infusion (IV) once a month. Some people can get their IV at home, while others can go to a center or their local hospital to receive their infusion.

If you have questions, a lipid specialist can provide more information on whether evinacumab might be right for you.

And, of course, you can always visit the Family Care Navigation Center for more help and support.