My name is Courtney Riley and I am a pediatrician in central Vermont. My family has elevated Lipoprotein(a), also known as Lp(a), an incredibly common but under-diagnosed genetic condition that can lead to strokes and heart attacks. Until recently this was just another fact about us. The way I saw it: a few of us have red hair, all of us have freckles, and some of us die of heart attacks. Unfortunately, I have learned a lot more about this condition recently as my 23-year-old sister Catherine died of a fatal heart attack in January of 2021.
To tell Catherine’s story I need to start with my dad’s. My dad had his first two heart stents placed at the age of 43. Since then he’s had a total of 7 stents placed, the most recent needing to be placed this past April, only two years after his last. His cardiologist heard about his family history of premature heart disease on both his mother and father’s sides and recommended testing for Lipoprotein(a). We were particularly interested in this because his total cholesterol and LDL levels alone did not seem high enough to explain his presentation. His Lp(a) level came back elevated at 175 nmol/L. This prompted his doctor to recommend screening for his children; my siblings and I. That is how we learned that in our family of five, three of us have elevated Lp(a) levels.
As far as we knew, Catherine was healthy. We knew she had elevated Lp(a) about 10 years ago after she was screened at the recommendation of our father’s cardiologist. Her level was high, but not alarmingly so, “only” 83 mg/dL. (I pause here to clarify that Lp(a) can be measured in either nmol/L, where less than 75 nmol/L is normal, OR in mg/dL, where less than 30 mg/dL is normal. As you can see my Dad’s test was in nmol/L and Catherine’s in mg/dL. While not totally accurate, if you multiply mg/dL by 2.1 you roughly get a person’s level in nmol/L). At the time of her lab test she was told to watch her diet and exercise. We were reassured that her risk of heart disease was low despite her elevated level because she was a young woman. This guidance was inadequate and wrong.
She ate a vegetarian diet for moral reasons. She exercised regularly and enjoyed running in road races. She had just graduated Cum Laude from University of New Hampshire College of Business and Economics, a particularly impressive feat since she completed her senior year working out of her childhood bedroom due to forced school closures caused by the Covid induced State of Emergency. She had just started a job at a financial company and she was quickly earning promotions for her efforts. She was saving money and furniture for her own apartment that she hoped to move into as soon as quarantine was lifted. She was smart and funny, beautiful and kind, and one morning she just didn’t wake up.
The medical examiner indicated that based on her findings it appeared that Catherine had been depositing lipids and creating plaque in her arteries for many years. She also told us she was surprised to find that there was already some evidence of calcifications. Calcifications usually indicate years’ worth of disease and they are an atypical finding in someone who is just 23 years old. It is possible that this could have been picked up using a coronary CAT scan, if only her doctor had ordered this test. She had always had “normal” cholesterol and LDL levels which likely contributed to some of the false reassurance.
Despite having a known elevated Lp(a) and a family history of early heart disease in her medical record, when she presented to her PCP with chest pain (otherwise known as angina) that worsened in times of stress she was prescribed an anti-anxiety medication. It is well known that women do not present with the typical chest pain on exertion that men do. For women, angina is not always the crushing chest pain that makes you grab your chest in the middle of shoveling the sidewalk. In fact, many women living with heart disease recall worsening symptoms (nausea, feeling hot, chest pain) when emotions are heightened, not just with activity. My sister had journaled her experience and described feelings of nausea and extreme exhaustion in addition to a feeling of pressure in her chest during a few episodes. This will forever feel like a missed opportunity to me.
In addition, it is now understood that Lp(a) not only increases clogging of arteries, but also likely increases the risk of blood clotting. Any PCP or OB/GYN can tell you that estrogen also increases your risk of blood clots. Despite this she was started on an oral contraceptive pill (“birth control pill”) that contained estrogen. As a physician I know that estrogen typically produces blood clots in veins and not arteries, but I can’t help but wonder if this also contributed to her fatal heart attack.
It should not take a cardiac event to alert a doctor or insurance company that a patient needs proper screening and management. For many, as in the case of my beautiful sister, their first heart attack may be their last. Catherine was living with a silent disease that took her away from us too soon. Shockingly, 1 in 5 people worldwide is also living with this condition and most do not know it. And as is the case with most genetic conditions, when you find one person with a condition, you will likely find more. So, while the worldwide ratio indicates that 1 out of 5 people have elevated Lp(a), for my family our ratio is 3 out of 5.
Since my sister’s death my mom, grandmother and I have joined the Family Heart Foundation as Advocates for Awareness to help bring this incredibly common and deadly condition to light. We are aiming to reach patients, families and healthcare providers. It is my goal as a pediatrician, sister, mother, and daughter to increase awareness and advocate for universal screening of Lp(a) at least once in a person’s lifetime. To date we have spoken with over 100 healthcare providers to share our knowledge and raise awareness, but there are still many more providers to reach. Lp(a) levels are not picked up in routine cholesterol testing. If you have a personal or family history of early heart disease, it is so important that you partner with your doctor to learn your numbers and know your risk to help prevent a similar fate.
We were not prepared to lose my sister. We were not ready and we did not see it coming. But we stand with you now ready to advocate for universal screening, early detection, increased education, and the discovery and implementation of appropriate interventions.
Courtney Riley, MD
Advocate for Awareness
Family Heart Foundation