Homozygous & Heterozygous Familial Hypercholesterolemia
What is FH?
FH is short for Familial Hypercholesterolemia. It is an inherited disorder that leads to aggressive and premature cardiovascular disease. For individuals with FH, diet and lifestyle are not the cause, although they can still make a difference.
The vast majority of the cholesterol circulating in a person’s body is produced by the liver. Cholesterol is a necessary component in the structure and function of human cells. Individuals with FH are unable to recycle this natural supply of cholesterol that their bodies are constantly producing. Therefore, the cholesterol levels of an individual with FH are exceedingly high. Over time the elevated blood cholesterol can lead to blockages in the arteries of the heart and/or brain.
There are two forms of FH. If you have inherited this genetic mutation from one parent, then you will have Heterozygous FH. Heterozygous FH occurs in 1 in 300 to 500 people worldwide. If you inherit FH from both parents it is much more severe. This form of FH is called Homozygous FH. It is very rare, occurring in about one in a million people worldwide.
Adults with FH may have LDL-C levels that range from 190mg/dl to 400mg/dl or higher. Children with FH have LDL-C levels above 160mg/dl.