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 (HeFH). HeFH occurs in 1 in 300 to 500 people worldwide. If you inherit FH from both parents, it is much more severe in its consequences. This form of FH is called Homozygous FH (HoFH). It is very rare, occurring in about 1 in a million people worldwide.
Cholesterol is a fatty substance, or lipid, in your bloodstream. It is measured in milligrams per deciliter (mg/dL). There is “good cholesterol,” known as high density lipoprotein cholesterol (HDL-C), and “bad cholesterol,” known as low density lipoprotein cholesterol (LDL-C).
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.
- High HDL-C levels are desirable and protect against coronary heart disease (CHD).
- High LDL-C levels are undesirable and contribute to CHD risk.
Triglycerides, another blood fat, come from the diet and are also produced in the liver. When very elevated, triglycerides can cause pancreatitis and can also increase the risk of developing CHD.