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Familial hypercholesterolemia (FH) is a condition that causes very high levels of blood cholesterol. The disease starts in childhood. FH causes a higher risk of early heart attack or stroke.
FH is caused by changes in one of a few genes. These genes tell your body how to process LDL (“bad”) cholesterol. When there is a defect in one of these genes, your body cannot remove LDL from the blood. This causes very high levels of LDL.
In most types of FH, a parent with FH has a 50% chance of passing the gene to their child. If you have FH, your parents, siblings, and children should also be checked.
Genetic Counseling
A genetic counselor is someone who can help you learn more about how a genetic illness affects you and your family. They look at how family and health history may impact the disease. They can help you decide which genetic test you need, and how to make the best choices for your healthcare.
All patients with FH are offered genetic counseling. This will help you figure out who in your family needs regular screening and medicine. This is vital. Early treatment can help prevent early heart disease.
Genetic Testing
The testing looks at four genes that relate to FH:
LDLR,
LDLRAP,
PCSK9
APOB.
Testing looks at your genetic code and compares it to a normal genetic code. It shows if there is a difference between yours and the normal versions of these genes.
To Find Out More
National Society of Genetic Counselors
www.nsgc.com
The FH Foundation
www.thefhfoundation.org
Who to Call
AFCH Pediatric Preventive Cardiology Clinic 608-263-6420
www.uwhealth.org/kidscholesterol
If you are a patient receiving care at UnityPoint – Meriter, Swedish American or a health system outside of UW Health, please use the phone numbers provided in your discharge instructions for any questions or concerns.
