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Homozygous familial hypercholesterolemia (HoFH)
HoFH is very rare. You inherit a gene defect from both parents, which can cause your LDL cholesterol to be extremely high from birth.
Homozygous familial hypercholesterolemia (HoFH) is a very rare and hereditary form of high LDL cholesterol ("bad" cholesterol). You develop HoFH if you inherit the genetic defect from both your father and your mother.
In HoFH, both copies of a gene do not function properly. These are genes that help remove LDL cholesterol from the blood. As a result, the body is much less able to clear LDL, and LDL cholesterol is often extremely high from birth.
High LDL levels can cause blood vessels to clog up more quickly (arteriosclerosis). This can lead to cardiovascular disease at a young age.
HoFH occurs worldwide in approximately 1 in 300,000 people (estimates vary by country and group).
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