Following a heart attack which almost killed her, a local woman has made it her mission to spread the life-saving message about fighting a disease that most people don’t even know they have until it’s too late.
“Most people have never heard of familial hypercholesterolemia, or FH,” Pasadena-based nonprofit FH Foundation CEO Katherine Wilemon said. “Including 90 percent of those who have it. Like her.”
“I started the FH Foundation after my own personal experience of having a heart attack in my late thirties and subsequently discovering that I had a genetic predisposition to heart disease,” she said.
“I was carrying a variant for familial hypercholesterolemia, which I quickly discovered almost no one had ever heard of, and yet it is the most common genetic causes of heart disease and one of the most common life threatening conditions out there,” according to Wilemon.
“And so as a result of my own experience, and learning both from healthcare providers and other patients how common this was, and how undetected an under-treated it was, I decided to start the organization to both do research in the field and to support individuals who have the condition,” she said.
According to the National Institute of Health, hypercholesterolemia is signified by very high cholesterol levels in the blood, leading to highly elevated risk of developing heart disease.
“Individuals with FH are at a six to 20 times increased lifetime risk of heart disease, and each first-degree relative has a 50 percent chance of inheriting this life-threatening genetic disorder,” according to an FH Foundation statement. It affects more than 1.3 million Americans, and 30-million people world-wide.
But experts say genetic testing can allow early detection of the illness, and much better outcomes for patients.
The Journal of the American College of Cardiology has published a consensus statement recommending patients with high levels of low-density lipoprotein, or LDL, cholesterol and a family history of high cholesterol or early heart attack to undergo genetic testing to help detect FH early.
While it’s not a perfect indicator of whether someone has FH, genetic testing can identify the disease in 60 to 80 percent of people who have it by detecting a genetic mutation associated with the condition, Foundation officials said.
Advances in genetic testing, and declines in the cost of the technology over the past three to five years are making the new technique practical, Wilemon said.
It’s just another tool in the belt of the FH Foundation as it works to raise awareness and advocate for patients on a global stage.
It is working on policy in conjunction with the Centers for Disease Control, the National Academy of Medicine and the National Lung and Blood Institute, Wilemon said.
More information is available online at TheFHFoundation.org.