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If you have extremely high levels of bad cholesterol (LDL-C), you might have HoFH

What is HoFH?

HoFH is a serious, lifelong, ultra-rare disease that is inherited from your parents, and it means your body is unable to clear bad cholesterol (LDL-C). This can result in plaque deposits in your arteries, called atherosclerosis, and often leads to early heart attacks, strokes, and other diseases involving the arteries.

HoFH is typically managed with multiple treatment approaches, including lifestyle changes, medications and other therapies.


Having HoFH means you have extremely high levels of bad cholesterol (LDL-C), reaching or exceeding levels 5x higher than target (≥10 mmol/L with HoFH vs 1.8 mmol/L target for adults with cardiovascular risk).


HoFH affects around 1 in 300,000 people, many of whom are not diagnosed or are diagnosed later in life which delays critical treatment.

Prevalence is higher in these groups:

1 in 275,000 French Canadians
1 in 30,000 Afrikaners in South Africa
1 in 10,000 Christian Lebanese

How is HoFH different from HeFH?

HoFH and HeFH can look quite similar; in fact, a significant number of people are initially misdiagnosed, as HoFH can be often mistaken for HeFH.

Homozygous FH (HoFH) Heterozygous FH (HeFH)
Mutated genes inherited from both parents Mutated gene inherited from one parent
Occurs in 1 in 300,000 persons Occurs in 1 in 250 persons
LDL-C >10 mmol/L (untreated) LDL-C cholesterol ≥4.1 mmol/L in children
LDL-C cholesterol ≥4.9 mmol/L in adults
Likely physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows and/ or between fingers and toes; these deposits are not always present May have physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows and/or between fingers and toes
Treatment at time of diagnosis, no matter the age, with a specialist Treatment as early as age 10

Adapted from McGowan and Cuchel et al.

Who gets it?

HoFH occurs when two mutated copies of FH-causing gene alleles are inherited, one from each parent; those parents most likely have the more common Heterozygous FH.

The correct identification of HoFH can affect entire families, as parents and other relatives may also be identified with FH. A person with HoFH may have siblings with HeFH.

What are the risks?

HoFH can progress quickly and have lifelong effects, leading to premature heart attacks, strokes and other cardiovascular events, often within the first two decades of life.

A missed diagnosis, misdiagnosis, or suboptimal treatment can allow the disease to progress.

Know the signs

Other members of your family who have Familial Hypercholesterolemia (this can be either HoFH or the more common HeFH)

Extremely high levels of bad cholesterol (LDL-C ≥10 mmol/L without treatment)

Early cardiovascular events, such as heart attack or stroke

Visible signs, such as fat build-up under the skin (called xanthomas), that can appear before the age of 10

Examples of xanthomas seen in children

Examples of xanthomas seen in adults

Next steps

Talk to your doctor about a diagnosis; with the right early diagnosis, you can take action to lower your bad cholesterol (LDL-C) with a treatment plan tailored to your condition

Seek immediate care for your condition from a specialist (like a cardiologist or endocrinologist)

Find a specialized lipid clinic near you

Find out if other family members are at risk of HoFH