Once again, I am beginning a treatment for the genetic condition of Familial Hypercholesterolemia (FH.) The treatment consists of an injection given every two weeks from the drug Praluent (Alirocumab) a PCSK9 inhibitor class of drug. In these early days of treatment it is my at-tent to describe treatment and potential side effects while providing information on the condition of FH as I understand it. I am a patient. Twenty-four hours later, I have no visible side effects at the injection site, experiencing a slight metallic taste in the mouth otherwise feeling very excited for this treatment and thankful to my team of physicians.
Dr Huth, Lipidologists Appleton,
WI. Heart Institute
What is Familial Hypercholesterolemia?
FH is short for Familial Hypercholesterolemia. It is an inherited disorder that leads to aggressive and premature cardiovascular disease. This includes problems like heart attacks, strokes, and even narrowing of our heart valves. For individuals with FH, although diet and lifestyle are important, they are not the cause of high LDL. In FH patients, genetic mutations make the liver incapable of metabolizing (or removing) excess LDL. The result is very high LDL levels which can lead to premature cardiovascular disease (CVD).
Did you know?
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. The longer a person experiences high LDL-C, the more likely he or she will be to experience a CV event. As FH is a genetic disorder, even when affected children are still in their mother’s womb they are “bathing” in their own high cholesterol. The process of vascular disease therefore can have its origins even prior to our children’s birth.
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 200 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 160,000 to one million people worldwide.
We measure blood cholesterol in milligrams per deciliter (mg/dL).
Adults with FH may have untreated LDL-C levels that range from 190mg/dL to 400mg/dL or even higher. Children with FH generally have LDL-C levels above 160mg/dL, but in pre-teens, levels can be even lower.
- High HDL-C levels are desirable and somewhat 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 extremely elevated, triglycerides can cause pancreatitis and can also increase the risk of developing CHD. High triglycerides are generally not present in people with FH. http://thefhfoundation.org/about-fh/what-is-fh/
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