Familial Hypercholesterolemia – An Introduction for the Recently Diagnosed

Being told youhave Familial Hypercholesterolemia (FH) can lead to questions about high cholesterol genetics, risks and treatments. If you are a newly diagnosed FH patient, here is some information to give you and your family a basic understanding of your condition.

First, you need to understand that high cholesterol genetics resulted in your condition. You inherited one or, in rare cases, two abnormal chromosomes, which leaves you vulnerable to premature heart disease caused by blocked arteries, such as heart attacks and strokes. There is also a chance that you can pass FH on to your children.

FH is what is known as an autosomal dominant genetic disorder, meaning that only one parent needs to have the condition for his or her children to inherit it. The abnormal gene is dominant, so even if the child receives a healthy gene from the second parent, the altered gene can override the healthy one. Those with one parent with FH have a 50 percent chance of inheriting the condition. When this happens the child has what is known as heterozygous FH (HeFH).

If both parents have FH, their children have a greater risk of having the more aggressive form. In the high cholesterol genetics lottery, these individuals not only carry a 50 percent chance of having HeFH, they also carry a 25 percent chance of having homozygous FH (HoFH), which results from inheriting two altered chromosomes. Individuals with HoFH may experience aggressive narrowing and blocking of the blood vessels that starts even before birth and progresses very rapidly, resulting in extremely early and serious heart disease.

FH limits the liver’s ability to process low density lipoproteins, commonly known as LDL or “bad” cholesterol. Cholesterol is naturally produced by the liver, and is also taken in through the foods you eat. Cholesterol is moved through the blood in particles called lipoproteins. High density lipoproteins (HDL) are commonly referred to as “good” cholesterol, while low-density lipoproteins (LDL) are called the “bad” cholesterol (LDL). As someone with FH, high cholesterol genetics have left your liver ineffective at keeping your LDL in check. As LDL builds up, it narrows the arteries, causing artheriosclerosis.

Unlike high cholesterol levels that are the result of poor nutrition, smoking, or lack of exercise, LDL readings caused by FH are exceedingly high and can’t be brought into the normal range through changes to eating, smoking or workout habits. Cholesterol-lowering medications are necessary for all FH patients to manage their condition.

According to the National Institutes of Health, people with heterozygous FH typically have an LDL cholesterol level two to three times higher than normal, while individuals with HoFH have LDL cholesterol levels three to six times higher than normal.

Individuals with FH have a 20 times higher risk of heart disease than the general population. According to the National Human Genome Research Institute, men with FH are likely to have heart attacks between the ages of 40-50, and 85 percent of men with FH will have a heart attack by age 60. Women with FH also have an increased risk for heart attack, generally between the ages of 50-60.

The good news is that the effects of your high cholesterol genetics can be managed with proper medication supplemented by a low-fat, high fiber diet; regular exercise; and not smoking. FH is most often treated by a combination of medicines, each of which serves a different function and complements the others. Statins inhibit the natural production of cholesterol in the liver. They are often prescribed in combination with a cholesterol absorber and a bile acid sequestrant, which prevents cholesterol from being absorbed by the intestine. Other cholesterol-lowering medications are fibrates, niacin, phytosterols, fish oils/omega 3 fatty acids, and PCSK9 inhibitors.

FH patients who take medication but whose LDL levels are still unacceptably high may also need to undergo a simple, regularly-scheduled treatment called LDL-apheresis. During LDL-apheresis, blood or plasma is taken out of the body, the LDL cholesterol is filtered out, and the filtered blood or plasma is returned to the body.

If you have FH, it is likely that other members of your family may also have it but not know it yet. Up to 90 percent of people with FH are unaware that they have it. Encourage your loved ones to get their cholesterol levels tested. In families with a pattern of early heart disease or high cholesterol genetics, the American Academy of Pediatrics recommends that children undergo cholesterol testing as early as age two, and before age 10.

To learn more about Familial Hypercholesterolemia and to discover more resources to help you understand and manage your condition, visit the Family Heart Foundation website athttps://familyheart.org/ or call the Family Heart Foundation at 626-465-1234.