What Is Heterozygous Familial Hypercholesterolemia?

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Heterozygous Familial Hypercholesterolemia (HeFH) is an inherited genetic disorder that causes dangerously high cholesterol levels, which can lead to heart disease, heart attack, or stroke at an early age if left untreated.

HeFH Is Inherited (Maybe instead: “The Difference Between HeFH and HoFH)

HeFH is one form of Familial Hypercholesterolemia (FH). As a genetic condition, it runs in the family–specifically, FH is 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 other 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 Familial Hypercholesterolemia. That individual then also has a 50 percent chance of passing the altered gene on to his or her own children.

If both parents have FH, their children have a 25-percent risk of inheriting two altered chromosomes, resulting in the rare and more aggressive form of FH, known as Homozygous Familial Hypercholesterolemia (HoFH). Individuals with HoFH experience high LDL cholesterol levels even before birth, which may lead to aggressive atherosclerosis. If left untreated, premature cardiovascular conditions may arise even before adolescence.

HeFH Limits the Body’s Ability to Process Cholesterol

HeFH compromises the liver’s ability to metabolize or remove particles that carry cholesterol through the blood. These particles exist in two forms. The first type, high density lipoprotein (HDL), is commonly referred to as “good” cholesterol. The second type, low density lipoprotein (LDL), is the “bad” cholesterol that candeposit in the blood vessels and narrow or block arteries, leading to heart attacks and strokes. In patients with Heterozygous Familial Hypercholesterolemia, the liver is rendered ineffective at keeping LDL in check. According to the National Institutes of Health, people with heterozygous FH typically have an LDL cholesterol level two to three times higher than normal.

HeFH Requires Medication

Heterozygous Familial Hypercholesterolemiacannot be managed solely through lifestyle changes because it is caused by a genetic mutation. While changes to eating, smoking or workout habits are important parts of a HeFH treatment plan, cholesterol-lowering medications are almost always necessary for patients to manage this condition.

FH is most often treated by a combination of medicines which work to lower cholesterol levels in the body. Statins, a common class of cholesterol-lowering drugs, inhibit the natural production of cholesterol in the liver.

They are often prescribed in combination with other cholesterol-lowering medications. If you have FH, an FH Specialist will work with you to determine the best medication combinations and treatment options for you.

Learn More About HeFH

The FH Foundation is a non-profit organization that raises awareness of FH through education, advocacy, and research. To learn more about Heterozygous Familial Hypercholesterolemiaand the ways you can contribute to awareness about the disorder,  explore our website or call the FH Foundation at 626-465-1234.

2 Responses to “What Is Heterozygous Familial Hypercholesterolemia?”

  1. Richard allen

    What test need to be ordered to find out if you have this condition I have had high cholesterol since teenage years so have both parents I do not tolerate statins I am a healthy weight and active I finally found a medication that has helped greatly but insurance won’t cover it unless I have this condition which I may have but I need to let my doctor know what test in order to diagnose this thank you

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