Homozygous Familial Hypercholesterolemia

Homozygous Familial Hypercholesterolemia (HoFH) is a genetic disease due to a mutation inherited from both parents. In most cases the mutation concerns the LDL-R gene. HoFH causes high levels of bad cholesterol which builds up in bloodstream starting from an early age.

HoFH is a very rare disease, with a prevalence estimated to be 1/1.000.000.

High levels of bad cholesterol can lead to the narrowing and hardening of arteries (known as atherosclerosis). In HoFH, clinical characteristics of the disorder includes tendon and skin xanthomas, corneal arcus, and a total cholesterol level > 600mg/dl.

Keeping cholesterol within a healthy range is important for everyone, but especially in patients with HoFH. Indeed, patients with HoFH have trouble reaching the right cholesterol levels with traditional methods, such as diet and anti-cholesterol medications, which can lead to extremely severe complications from early onset cardiovascular disease.