At age 38, I was sent home from the ER despite having a heart attack. I was gardening when I felt crushing chest pain. I called 911 in a panic. When the paramedics arrived, they quickly “ruled out” a heart attack based on my young age, petite build and overall health. I would later learn that women in the throes of a heart attack are often misdiagnosed just as I was.
It wasn’t until the next day when I could barely walk up the stairs to my cardiologist’s office that they discovered I had a complete blockage of the main artery in my heart and, basically, the arteries of a 70 year old. An emergency stent procedure saved my life.
My whole world was turned upside down. I had always known I was at higher risk of heart disease because my doctor had told me I had extremely high cholesterol at age 15, but I had no idea how severe the danger was.
[See: 17 Ways Heart Health Varies in Women and Men.]
A Common Genetic Condition You’ve Never Heard Of
Now, I know that I have familial hypercholesterolemia, or FH, a genetic condition that results in high levels of low density lipoprotein (LDL or “bad”) cholesterol from birth and causes advanced heart disease during the prime of life.
FH is the most common genetic cause of early heart disease. It affects more than 1.3 million people in the U.S. and 30 million people worldwide. Tragically, 90 percent of those living with FH don’t even know they’re in a race against time. However, FH is just as common as Type 1 diabetes, which affects about 1 in 220 people. FH affects men and women and is found in all races and ethnicities.
FH is a public health concern that no one has ever heard of. If we can make sure that FH is recognized, the story of millions of families with FH around the world could be changed.
Grateful to have survived, I decided to dedicate my life to helping others with FH. I started the FH Foundation with the hope that health care providers and people living with FH could work together to address the many gaps in understanding and care. Over the last seven years, it has been my honor to work with experts and families globally and in the U.S. to advance research, education and advocacy on behalf of the FH community. We serve as a resource for individuals who are newly diagnosed, those who have just had a heart attack and parents who learn that a son or a daughter inherited the condition.
People with FH have as much as a 20 times higher risk of having a heart attack because of their lifetime exposure to high cholesterol. When I speak at medical conferences, I often hear doctors ask, “If I’m treating someone’s cholesterol, does it really matter if they have FH?” The answer: Yes, It does matter. For people like me who have FH, diet and exercise will never be enough — it requires proactive management with medications started early in life, usually at about 10 years old, to counteract that lifelong exposure.
You do not find individuals with FH — you find families with FH. For each child of someone with FH, there is a 50 percent chance of inheriting FH from one affected parent. Treating children with FH reduces their lifetime risk of heart disease by 80 percent. Guidelines recommend cholesterol screening of children between the ages of 911 to help find FH, and at 2 years old if a parent has FH. But this isn’t happening.
[See: How to Avoid a Second Heart Attack.]
New Recommendation: Genetic Testing
Two years ago, the FH Foundation convened experts from multiple fields, as well as individuals with FH, to review the benefits and limitations of using genetic testing to improve the diagnosis and care of FH. As a result, we authored and published important recommendations in the Journal of the American College of Cardiology. The recommendations say that genetic testing should be offered to individuals with probable FH and their relatives.
Why is genetic testing important? Although FH can be diagnosed from cholesterol levels, studies show that individuals who have a genetic diagnosis are more likely to initiate therapy, stay on therapy and ultimately have lower LDL levels. Because FH runs in families, genetic testing also improves peoples’ commitment to have their family screened. Adults with the FH gene are three times as likely to have a heart attack at any cholesterol level compared to the rest of the population.
Genetic testing concerns some people because of possible implications for life insurance and possible social stigmatization. On the other hand, many people are reassured by having a diagnosis and feel safer when affected family members have dropped their cholesterol levels to normal. It should be remembered that a negative genetic test result does not eliminate heart attack risk if your cholesterol is high. Patients should continue management with appropriate treatment to reduce LDL cholesterol. Genetic counseling helps patients successfully navigate these issues.
[See: 10 Heart Health Breakthroughs.]
FH Can’t Wait — Take Action
If you have high levels of LDL cholesterol and members of your family have had a stent, bypass surgery or a heart attack before the age of 60, it’s possible that you have FH. Nine out of 10 people with FH don’t know it and have probably never heard of the condition. FH is life-threatening, and yet it’s manageable if identified and treated early. FH can’t wait. To learn more, you can go to the TheFHFoundation.org to be connected with an FH specialist and find information and resources for physicians and patients, including how to get diagnosed both clinically and with genetic testing.
Heart disease is the biggest killer in the world and causes more illness than any other condition. But familial hypercholesterolemia is a story of hope. Now, we can know which individuals and families are at highest risk and with proper care, those of us born at the highest risk can live long, healthy lives.
Katherine Wilemon is founder and CEO of the FH Foundation.
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Familial Hypercholesterolemia: Shining Light on a Serious Genetic Condition originally appeared on usnews.com
