Familial Hypercholesterolemia: Genetics Play a Big Part

If you suffer from high cholesterol that doesn’t respond to conventional medical treatments, you may have more than a tough case of treatment-resistant cholesterol. You may suffer from a condition known as familial hypercholesterolemia (FH), an inherited disorder that causes people to have unusually high levels of LDL cholesterol — the “bad” cholesterol — and puts them at greater risk of developing coronary artery disease and suffering an early heart attack.

Hypercholesterolemia can be acquired or inherited. Those who acquire the condition usually do so as a result of the food they eat, filling the bloodstream with excess cholesterol over a long period of time. Eventually, the cholesterol forms plaque on artery walls that causes them to narrow and harden, creating a condition called coronary artery disease. Coronary artery disease causes chest pain (angina) and increases a person’s risk of having a heart attack.

Inherited hypercholesterolemia can also precipitate coronary artery disease. However, unlike the acquired condition, the inherited condition starts affecting a person at birth. This is because it passes from parent to child as an autosomal dominant inherited disorder — a disorder in which the gene that causes the condition has a 50 percent chance of passing from parent to offspring. If your parent has inherited hypercholesterolemia, there is a good chance you have it, too.

Familial hypercholesterolemia genetics result from mutations to four specific genes: APOB, LDLR, LDLRAP1, and PCSK9. Mutations to these genes cause 1 in 500 people to suffer from FH, despite healthy lifestyle choices. All races and nationalities are known to experience the condition, but statistics show the greatest prevalence (as common as 1 in 67 people) occurs among certain populations, particularly: Afrikaners in South Africa, Lebanese, French Canadians, and Ashkenazi Jews.

If your family has a history of treatment-resistant high cholesterol, or if your family cholesterol levels are not known, but male family members have had heart attacks in their 40s and 50s, and female members have had heart attacks in their 60s, getting screened for FH is a wise decision. Additional signs that indicate the presence of the condition include constant chest pain and little lumps (cholesterol deposits) around the corner of the eye, in the skin, and in the tendons.

A physical exam and laboratory tests are used to screen for FH. If tests reveal you have hypercholesterolemia, a treatment regimen can be developed to lower your cholesterol and help prevent you from experiencing coronary artery disease that leads to a heart attack. Common treatments for FH include: taking a statin drug, taking a cholesterol absorber, taking a bile acid sequestrant, and adopting healthy lifestyle habits such as exercising and not smoking.

If you need more information about familial hypercholesterolemia genetics and how they contribute to FH, contact the Family Heart Foundation. We are the best source on the web for information regarding the signs and symptoms of FH, and the diagnosis and treatment of the condition. Working with a group of committed physicians, nurses, professional organizations, and government representatives, we strive to make positive changes for those who have FH.

For more information about familial hypercholesterolemia genetics, browse through our website, call us today at (626) 465-1234, or click here to use our contact form.