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
Participate in Events Near YouJun 10
The OIFE Annual General Meeting (AGM) will be held in Stockholm Sweden from June 10-11, 2023. All organizations are invited to attend and to speak at the annual general meeting, […]
Jun 17
The month of June is meaningful to the CDKL5 community. Every year in June, the CDKL5 community works to educate and raise awareness about the disorder.
Jun 23
June 23 is X-linked hypophosphatemia (XLH) Awareness Day. Each year, the XLH community works to educate the general public about the condition and celebrate those who are #XLHStrong.
Rare Experiences
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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.”
Kylie
Mucopolysaccharidosis Type VII (MPS VII)“Anyone who meets our youngest daughter Kylie always comments on her beautiful smile and playful nature.”
