Stanford provides specialized genetic testing and comprehensive, personalized care for inherited heart conditions such as familial hypercholesterolemia.

People can have an inherited heart condition and not even know it. Sally, a patient at the Stanford Center for Inherited Cardiovascular Disease, talks about finding out at age 21 that she had familial hypercholesterolemia (FH).

Sally says that both of her parents had had heart attacks—and survived, luckily. But it was a message to her to take a very serious look at her own health. She read online about Joshua W. Knowles, MD, a Stanford cardiologist, and traveled to Stanford for further evaluation.

Genetic testing confirmed that Sally has FH, and she began treatment right away with Dr. Knowles and his team. Depending on what each patient needs, there’s a team member for that need. The team helps patients understand what they can do—besides treatment—to manage FH and other inherited heart conditions.

Sally met with a dietitian to create a healthy eating plan that works for her. She worked with other team members on behavior modification such as getting exercise and maintaining a healthy weight.

Dr. Knowles describes familial hypercholesterolemia as a condition caused by genetic mutations that affect the body’s ability to recycle LDL cholesterol in the liver. He notes that with effective treatment, starting as early as possible, people with FH can live long and healthy lives.

Dr. Knowles explains how the genetic mutations for FH, an autosomal dominant disease, are passed down in families. And that means FH has serious implications for the rest of the family. In Sally’s family, all three of her children have FH.

Sally says she often talks with her kids, who are in their 20s, to make sure they’re taking their medicine and going to the doctor. At the same time, she reminds them of all the positive genetic traits she’s passed to them, like a great sense of humor.

As a high-volume center for inherited heart disease, Stanford cardiologists see many people with FH, and Dr. Knowles has extensive expertise in treating people with the condition. At Stanford, patients have the added benefit of access to clinical trials, which offer eligible patients the latest treatments that aren’t widely available.

Learn More
Stanford Center for Inherited Cardiovascular Disease: https://stanfordhealthcare.org/medical-clinics/center-inherited-cardiovascular-disease.html

Joshua W. Knowles, MD: https://stanfordhealthcare.org/doctors/k/joshua-knowles.html

Information about familial hypercholesterolemia: https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/familial-hypercholesterolemia.html