Four years ago, when I was out on my daily four-mile walk, I had a very strange sensation, come over my chest and neck. It only lasted a few minutes, so I continued on my walk. It was alarming, but not enough to make me stop or pay too much attention.
But later that day, when I was packing for a hiking trip, I felt the same sensation. This time, it shot up my carotid arteries. A sense of impending doom came over me that I couldn't ignore. So, I decided to go to the emergency room.
After running a few tests, the doctors thought it was likely that I had a pinched nerve in my neck. However, one very astute physician noticed in my chart my family history of familial hypercholesterolemia. He asked if I wouldn't mind staying overnight to keep checking my troponin level, which was only mildly elevated at the time. My troponin level did elevate, and they told me that I had had a non-ST segment elevation myocardial infarction, or NSTEMI.
The next morning, they performed an angiogram where they found eight significant blockages. I was in shock and disbelief, but that doctor who had paid attention to FH definitely saved my life. A few days later, I had quadruple bypass - at age 54 that was both unexpected and frightening. The next year, I had two stents placed.
I had been diagnosed with familial hypercholesterolemia at age five and treated for high cholesterol almost all of my life. I took statins for over 20 years, along with other prescribed cholesterol-lowering medications as they were developed. I thought that since my mom - who had FH and passed it to me - had been free of heart disease, that I would be fine. My doctors had assumed that I would be fine, but, clearly, I was not fine.
I have both high LDL and elevated lipoprotein(a) and so did my mother. Awareness of lipoprotein(a), or Lp(a), as a risk factor for heart disease and stroke is growing. Our Lp(a) had not been tested until after my bypass surgery. My mom and I share the same untreated LDL levels of 350 mg/dL (milligrams per deciliter. We also shared the same Lp(a) levels of 350 nm/L (nanomoles per liter). And yet, our clinical outcomes were not the same.
Our family history tells a sad story of untreated FH and likely elevated Lp(a). My mom's dad died at age 31 and his brother at age 32, both from heart attacks. I remember my mom saying as I was growing up that she felt like a ticking time bomb her whole life. I took statins up until a year prior to my bypass surgery, when I developed severe statin-induced myopathy and neuropathy. I began taking PCSK9 inhibitors because I can't take statins and get only a modest response.
My doctors were at a loss - they suggested I should stay on the statins, even though I would likely end up in a wheelchair due to the statin complications. I was told that at, hey, at least I'd be alive. But I'm a really athletic, outdoorsy person, and my emotional well-being depends on staying active.
And so I began desperately searching for treatment options. Luckily, I found the FH Foundation, and with it, the support of many others who had had similar experiences. The FH Foundation allowed me to arm myself with the knowledge that I would need to advocate for myself. Their website is where I found resources for lipoprotein apheresis. (Lipoprotein apheresis is a nonsurgical therapy that removes low-density lipoprotein (LDL) cholesterol and Lipoprotein(a) from the blood.) My doctors had never mentioned apheresis as an option - one doctor even specifically discouraged me from doing it.
I talked to other women who were receiving lipoprotein apheresis through the FH Foundation , and that's how I found hope again.
The treatment lowers my LDL and Lp(a) both to around 35, but within two weeks, my LDL cholesterol rebounds to 160, and my Lp(a), to about 300. The procedure takes about 4 hours every two weeks and I enjoy getting to know my nurse, so it's like spending the day with a close friend. I scheduled travel around it, and while the bruises are annoying, it has a really positive effect on both my physical and emotional wellbeing. It gives me great peace of mind knowing that I'm doing everything I can to help myself.
The compound effect of having FH and elevated LP(a) is indeed a ticking time bomb. FH occurs in one in 250 people and Lp(a) in one in five. My cardiologist missed my extremely advanced heart disease in a visit just two months prior to my bypass surgery, because I appear active and healthy and have never had any chest pain.
So doctors, please, pay special attention to post-menopausal women who have these extremely elevated cardiovascular risk factors. One of my two daughters has FH and elevated Lp(a) and her levels mirror mine. It's my hope that doctors like you will provide her the best care and in the very near future treatment for Lp(a) will be available so that she and I can both live longer and healthier lives.
To my fellow patients, especially if you have a family history of these risk factors, don’t be afraid to ask difficult questions, explore your options, and seek community with others who understand what you’re going through.
Advocate for Awareness
The FH Foundation