High cholesterol is a serious health condition that affects millions of Americans. However, the source of the problem is not always the same. Some people have high cholesterol due to personal habits, such as maintaining an unhealthy diet or remaining sedentary; others have high cholesterol due to a inheritable genetic condition called familial hypercholesterolemia (FH). People with this disorder carry ahigh cholesterol genetic predispositionto heart disease, heart attack, or stroke.
What is familial hypercholesterolemia?
Familial hypercholesterolemia is an inherited genetic condition that causes a harmful level of low density lipoprotein (LDL) cholesterol (also known as “bad cholesterol”) in the blood. The disorder can be inherited from one parent or from both. When inherited from one parent, the condition is called heterozygous familial hypercholesterolemia. When inherited from both, the condition is known as homozygous familial hypercholesterolemia.
Familial hypercholesterolemia, and therefore a high cholesterol genetic predisposition to heart disease, can be detected by mutations to the following genetic elements: Apolipoprotein B in ApoB100 form, proprotein convertase subtilisin/kexin type 9 (PCSK9) gene, and low-density lipoprotein receptor adapter protein 1 (LDLRAP1) gene. If you or your physician suspect that you have familial hypercholesterolemia, there are tests to determine whether or not you have the disorder.
How is familial hypercholesterolemia treated?
Treatments begin with a heart healthy lifestyle and almost always require medications. The heterozygous form of the disorder is usually easier to treat than the homozygous form. Sufferers of heterozygous familial hypercholesterolemia can often keep their cholesterol in check through healthy lifestyle choices and cholesterol lowering medication. The homozygous form does not respond as well to standard therapies, and often requires more serious treatment such as LDL apheresis or, in rare cases, a liver transplant. Promising new developments offer more options for the treatment of homozygous FH. Two new treatments, mipomersen and lomitapide, have recently been approved by the FDA for the treatment of homozygous FH.
Regardless of the type of familial hypercholesterolemia one has, it is essential to treat the disorder aggressively. Untreated heterozygous familial hypercholesterolemia commonly leads to prematurecardiovascular events, such as strokes and heart attacks; meanwhile, unchecked homozygous familial hypercholesterolemia can lead to cardiac events even before adolescence. As a result, early and aggressive treatment of the disorder is essential.
What is the health outlook for familial hypercholesterolemia?
With early diagnosis and adequate treatment, people with FH can lower their LDL levels and significantly reduce the risk of premature cardiovascular disease. The key to a positive outcome, of course, is diagnosing the disorder as soon as possible. It is estimated that nearly 90% of people with familial hypercholesterolemia are undiagnosed. Among this population, the chance of experiencing a premature cardiac event is high.
According to research, familial hypercholesterolemia occurs in roughly 1 in 500 people. However, according to the American College of Cardiology, only 10% of cardiologists
are “very or extremely confident” in their understanding of familial hypercholesterolemia. Consequently, being diagnosed often requires at-risk individuals to advocate for their own health by suggesting tests for the condition.
Support the FH Foundation
If you have familial hypercholesterolemia, or know someone who does, you may be interested in supporting the FH Foundation through donations and/or volunteer work. The FH Foundation is committed to raising awareness of familial hypercholesterolemia through education, advocacy, and research. With your support, we can win the fight against the disorder by providing at-risk individuals with the support and information they need to help understand this disorder.
For more information about high cholesterol genetic predispositionto heart disease, heart attack, or stroke, and to learn more about the FH Foundation, call us today at (626) 465-1234 or use our contact form.