There’s a lot to be grateful for in life, but high on my list is the unlikely story of an early diagnosis of familial hypercholesterolemia, or FH (then called “Type 2a familial hyperlipidemia”) way back in 1975, in a small upstate New York village.
My father died of a heart attack at age 50 when I was 11, in 1966, before cholesterol levels were routinely monitored. I knew my dad had had issues with his heart for years, and 50 seemed old to me, though I could see how shocked others were when they heard he’d passed.
But after my mom’s death from breast cancer at 49, my only sibling — my older brother, Tommy — died suddenly of a heart attack at age 27, when I was 20. The warning bells had grown too loud to ignore. I felt fine and had no symptoms to indicate anything was awry, yet I knew it was time to seek a physical exam myself.
Sitting in the doctor’s office that day, barely 21, I was shocked when he revealed my cholesterol levels were “off the charts.” With total cholesterol as high as 450 mg/dL (as opposed to typical levels of 200 mg/dL or below), LDL (“bad cholesterol”) well over 190, and a family history significant for early heart events, he told me I had clearly inherited what we now refer to as FH.
This put me in a vastly different demographic than friends who, over the years, were diagnosed with high cholesterol and were successful in lowering it through dietary modifications and exercise. Yet I had no idea how unusual it was to receive this accurate diagnosis at a time when few physicians were identifying this form of high cholesterol as the genetic disorder it is.
I took this diagnosis in stride, as I had the losses I’d experienced at a young age. I took the medications that were available for high cholesterol at the time (both before and after the release of statins), watched my diet, tried to fit adequate exercise into my already busy life, and hoped for the best. Still, on regular visits to my cardiologist, I learned even these were not enough to lower my numbers to a desirable level.
When each of my three children turned 2, I requested their cholesterol be tested and was surprised to find my oldest son and my daughter, the youngest, had each inherited FH. Our pediatrician was shocked; though children could be tested, little was known about how to treat a child with a total cholesterol more than twice the expected level. We were referred to a doctor with a lipid specialty an hour from home, another stroke of fortune that changed the course of our treatment and our lives.
Without being fully aware of how my thinking had changed, I gradually began to accept I’d likely die young. When I became pregnant with my third child, I abstractly considered that I’d be 50 when she turned 18. I’ll probably live till 50, I thought, so it’s not irresponsible to have another child. Though people constantly remarked on how young I looked, I worried that my arteries were anything but.
It’s been a long road from then till now. The advent of newer medications that have a much greater impact on reducing levels of LDL (“bad cholesterol”) have changed the diagnosis from what once felt like a sentence to early death to something I can control.
As an active 67-year-old woman, I’ve lived longer than anyone in my family by nearly 2 decades. The anxiety I once felt about having FH has been replaced with gratitude — for doctors who “know FH” and diagnose it appropriately, for effective treatments, and for the hope of a long and healthy life. If your LDL cholesterol is over 190 and you have a family history of early heart events, you might consider talking with your doctor about FH.
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