How Common Is Familial Hypercholesterolemia?

Familial Hypercholesterolemia (FH) is a genetic condition that, if left untreated, can lead to aggressive and early heart disease, heart attacks, and strokes. Individuals with FH have a 20 times higher risk of heart disease than the general population.

Familial Hypercholesterolemia is a common disorder but not commonly diagnosed. In the United States, between 600,000 and 2,000,000 people have FH. Because signs of the condition are often only associated with unhealthy lifestyle choices, nearly 90 percent of people with FH are unaware that they have it.  Worldwide, 1 in every 200-500 people has FH. Certain populations display a higher prevalence of FH, such as the French Canadian, Ashkenazi Jew, Lebanese, and South African Afrikaner populations. In these populations, 1 in every 67 people are found to have FH.

Familial Hypercholesterolemia 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 mutated gene is dominant, so even if the child receives a healthy gene from the other parent, the mutated gene can override the healthy one. Those with one parent with the condition have a 50 percent chance of inheriting FH. This form is known as heterozygous FH (HeFH).

If both parents have FH, their children have a greater risk of a more serious form of the disease: homozygous FH (HoFH). These children have a 25 percent chance of inheriting FH. HoFH results in high LDL cholesterol levels even before birth and progresses very rapidly, resulting in extremely early and serious heart disease if left untreated. Individuals with HoFH have LDL cholesterol levels three to six times higher than normal, according to the NIH. Additionally, HoFH is the much less common form of FH, occurring in about 1 in 160,000 to 1 in 1,000,000 people worldwide.

People with FH often don’t know they have the genetic disorder, so it is important to be aware of any family history of high cholesterol and early heart disease or heart attacks when considering your risk. If your family has a pattern of heart attacks or heart disease in men before age 55 or in women before age 65, the American Academy of Pediatrics (AAP) recommends that children in that family should undergo cholesterol testing as early as age two, and before age 10. Moreover, the National Heart, Lung, and Blood Institute (NHLBI) and the AAP recommend universal cholesterol testing for all children between the ages of 9 and 11 (and again between the ages of 17 and 21). If you have this family history, it is important to meet with an FH Specialist as soon as possible in order to obtain early and adequate treatment if FH does indeed run your family.

the Family Heart Foundation is a non-profit organization that raises awareness of FH through education, advocacy, and research. Contact the Family Heart Foundation athttps://familyheart.org/contact-us to learn more about familial hypercholesterolemia and more about the ways you can help the cause.