What is HoFH?
HoFH raises your blood cholesterol to very high levels, it’s passed down in families.
HoFH is diagnosed with a combination of cholesterol testing, checking for physical signs of HoFH, questions about your family’s and your own history of heart disease, and genetic testing.
People with HoFH tend to have extremely high cholesterol levels, so it can often be diagnosed with a cholesterol test. As a guide:
If two parents have FH there is a high chance that any children they have will inherit FH or HoFH. Because the parents will probably already be under the care of a specialist, their child can be diagnosed very quickly with a cholesterol test.
Very high cholesterol can sometimes cause physical signs and symptoms which can be used to diagnose HoFH.
Sometimes cholesterol levels aren’t as high as expected for HoFH. In this case there are other things your health professional can consider to make a diagnosis.
Genetic testing is where scientists look in detail at your genes to see if there are any genetic faults which are causing disease. This can be very helpful for a number of reasons. It can: