We are excited to see much more coverage of familial hypercholesterolemia (FH) in the news and social media. Recently, Grey Genetics featured Fran Emmolo Gamella on their podcast Patient Stories. Fran shared how she only understood her diagnosis of FH after a heart attack at 31. Unfortunately, it’s a story we hear far too often at the Family Heart Foundation. Individuals who were told by their physicians that they have inherited high cholesterol, and even prescribing medication, but often not given enough information to understand how life-threatening this condition can be, when untreated.
In Fran’s case, she has homozygous familial hypercholesterolemia (HoFH). HoFH is a more severe form of FH, which is caused by inheriting two genes (one from each parent). Fran now takes Juxtapid, or lomitapide, to treat her HoFH. (Editor’s note: Juxtapid is not a PCSK9 inhibitor as mentioned in the podcast. Lomitapide is a treatment designed to inhibit the function of microsomal triglyceride transfer protein (MTP), which plays an essential role in the liver and intestines by synthesizing lipoproteins that contain cholesterol. More information on treatments for HoFH can be found here)
Check out the podcast for yourself below, and let us know what you think in the comments!