HoFH Awareness Day Date in the current year: May 4, 2025

Familial hypercholesterolemia is a genetic disorder characterized by abnormally high levels of low-density lipoprotein cholesterol (LDL cholesterol, often referred to as “bad cholesterol”) caused by a mutation in one of several genes on chromosome 19. It is most commonly caused by mutations in the LDLR gene, but can also be caused by mutations in the APOB, PCSK9, or LDLRAP1 genes.

There are two main types of familial hypercholesterolemia: heterozygous and homozygous. Patients with heterozygous familial hypercholesterolemia (HeFH) have one abnormal copy of the affected gene, while patients with homozygous familial hypercholesterolemia (HoFH) have two abnormal copies of the gene, one inherited from each parent. HeFH is a more common and less severe condition than HoFH, while HoFH is very rare and much more dangerous for a number of reasons.

HoFH affects about one in 250,000 to 360,000 people. It is more common in certain populations, such as the Afrikaner, Finns, French Canadians, and Lebanese Christians, due to a genetic phenomenon called the founder effect. People with HoFH typically have cholesterol levels that are about 4 to 10 times higher than normal. Due to high cholesterol levels, they may develop xanthomas (fatty deposits under the skin), xanthelasma (cholesterol deposits around the eyes), and corneal arcus (a grayish or whitish ring around the cornea).

Unlike HeFH, which usually causes the development of cardiovascular disease around age 30 to 40, HoHF can cause severe cardiovascular disease as early as childhood, especially if undiagnosed and untreated. It is treated with cholesterol-lowering drugs such as statins; the problem is that HoFH often does not respond well to medication. In severe cases, doctors may recommend LDL apheresis (a dialysis-like procedure to filter cholesterol from the blood) or liver transplantation as a last resort.

HoFH Awareness Day was launched by the FH Europe Foundation (FHEF), a network of patient organizations representing the needs of patients with familial hyperlipidemias. The date, May 4, was chosen because it sounds similar to the iconic line “May the Force be with you” from the Star Wars franchise. Coinciding with Star Wars Day, HoFH Awareness Day highlights the importance of the strength, resilience and courage needed to overcome health challenges.

HoFH Awareness Day brings together patients, their families and caregivers, organizations, and other stakeholders to shed light on HoFH and emphasize the importance of access to proper diagnosis and treatment. You can get involved by learning more about HoFH and sharing what you’ve learned with others, donating to an organization that supports HoFH patients or funds research, and spreading the word on social media using the hashtag #HoFHAwarenessDay.