Also known as Homozygous FH
What is it?
Homozygous Familial Hypercholesterolemia (HoFH), is an ultra-rare inherited condition that causes high cholesterol. Untreated, patients with HoFH are at risk for premature atherosclerotic disease and cardiac events such as myocardial infarction that can occur in children below 10 years of age.What Causes It?
HoFH occurs when two copies of the familial hypercholesterolemia (FH)-causing genes are inherited, one from each parent, resulting in dangerously high levels of low-density lipoprotein cholesterol (LDL-C), or bad cholesterol. The LDL-C level is typically between 400-1000 mg/dL (10.3-25.9 mmol/L for EU and Canada) – up to 10 times the normal range if untreated.What Are Some Common Symptoms?1
- Xanthomas: cholesterol under the skin and tendons. In children, they are often found in the buttocks or folds of skin. They can also be found on tendons of the ankles and hands.
- Xanthelasmas: cholesterol deposits in the eyelids.
- Corneal Arcus: is a greyish-white ring of cholesterol deposits in the outer edge of the cornea.
- Heart and blood vessel disease: caused by cholesterol plaque buildup.
How Many People Have It?
It is estimated to affect 1 in 300,000 to 450,000 people worldwide.Upcoming Community Events
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Cynthia
Mucopolysaccharidosis Type VII (MPS VII)“We would like Cynthia to know that she is not the only one with a rare disease”
Matthew
Mucopolysaccharidosis Type VII (MPS VII)“He has his own way of communicating with people, including his own language, which his family and very close friends have learned”
