There is much to be thankful for in life, but at the top of my list is the unlikely story of an early diagnosis of familial hypercholesterolemia, or FH (then called “familial hyperlipidemia type 2a”) in 1975, in a small upstate New York village.
My father died of a heart attack at the age of 50 when I was 11, in 1966, before cholesterol levels were systematically monitored. I knew my dad had heart problems for years, and 50 seemed old to me, although I could see how shocked others were when they found out he had passed away.
But after my mother died of breast cancer at 49, my only brother, my older brother, Tommy, died suddenly of a heart attack at 27, when I was 20. The alarm bells had grown too loud to ignore. I felt fine and had no symptoms that anything was wrong, but I knew it was time for a physical exam myself.
Sitting in the doctor’s office that day, at barely 21, I was shocked when he revealed that my cholesterol was “off the charts”. With total cholesterol as high as 450 mg / dL (as opposed to typical levels of 200 mg / dL or less), an LDL (“bad cholesterol”) well above 190, and a family history significant for early cardiac events, he told me that I had clearly inherited what we now call FH.
This put me in a very different demographic than friends who over the years have been diagnosed with high cholesterol and successfully lowered it through dietary changes and exercise. Still, I had no idea how unusual it was to receive this precise diagnosis at a time when few doctors identified this form of high cholesterol as the genetic disease it is.
I eagerly accepted this diagnosis because I had the losses I experienced at a young age. I took the high cholesterol medications available at the time (before and after the statins were released), watched my diet, tried to fit adequate physical activity into my already busy life and I hoped for the best. Yet, during regular visits to my cardiologist, I learned that even these were not enough to lower my numbers to a desirable level.
When each of my three children turned 2, I asked for their cholesterol to be tested and I was surprised to find that my oldest son and youngest daughter had each inherited HF. Our pediatrician was shocked; although children can be tested, little was known about how to treat a child with a total cholesterol level above twice the expected level. We were referred to a lipid doctor an hour away from home, another stroke of luck 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 that I would probably die young. When I got pregnant with my third child, I thought abstractly that I would be 50 when she was 18. I’ll probably live to be 50, I was thinking, it is therefore not irresponsible to have another child. Although people constantly noticed how young I looked, I worried that my arteries were anything but.
It has been a long road from then until now. The advent of new drugs that have a much greater impact on lowering LDL (“bad cholesterol”) levels have changed the diagnosis from what once looked like a premature death sentence to something I can control.
As a working 67 year old woman, I have lived longer than anyone in my family of almost 20 years. The anxiety I once felt about HF has been replaced by gratitude – for doctors who “know about HF” and diagnose it appropriately, for effective treatments, and for the hope of recovery. long and healthy life. If your LDL cholesterol level is over 190 and you have a family history of early cardiac events, you may consider discussing HF with your doctor.
Photo credit: daizuoxin via iStock / Getty Images Plus