FH Treatments

Treating Homozygous Familial Hypercholesterolemia (HoFH)


Homozygous familial hypercholesterolemia (HoFH) is a 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 lomitapide (brand name Juxtapid) for the treatment of people with HoFH only.

How does lomitapide work?


What makes lomitapide different, and particularly effective for HoFH patients, is that it does not require any functioning LDL receptors. This medication blocks the production of microsomal triglyceride transfer proteins (MTP) that help in the production of LDL cholesterol.

Studies have shown that lomitapide reduces LDL, on average, by 40%. This, on top of other lipid lowering medications, has helped people with HoFH lower their LDL levels.

Side effects of lomitapide

A person taking lomitapide must be on a very low saturated fat diet in order to minimize side effects. They also need to supplement their diet with fat soluble vitamins (A, D, E, and K). The most common side effects of lomitapide are diarrhea, nausea, vomiting, and abdominal pain.

Because lomitapide can increase liver function enzymes and liver fat, your healthcare provider will check your liver function and may periodically perform a liver ultrasound or MRI to check for liver fat.

Before you take lomitapide

  • Check for interactions with the drugs you are already taking
  • Do not take lomitapide while pregnant or nursing
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