I was 63 in 2017, when I first met my current cardiologist, and I’d come prepared. After spelling out my family history — father and brother dead at 50 and 27, respectively, both of massive heart attacks, two of my three children diagnosed with high cholesterol at age 2 — I opened the notes app on my phone and presented an overview of the past four decades. Cholesterol levels — total, HDL, and most importantly, LDL. Tests and results. Medications, prescribed and over-the-counter. Alternative therapies.
“I have familial hypercholesterolemia,” I told him. I need a doctor who understands FH. I need a doctor familiar with the newest medications. I’ve tried everything else, and nothing has gotten my LDL to an acceptable level.”
I’d been managing my own elevated cholesterol since I was 21, just after my brother had died. Just after my small-town upstate New York doctor had, remarkably, given me an accurate diagnosis of type 2a familial hyperlipidemia. Today, we know this as familial hypercholesterolemia.
In the intervening years, rule-follower that I am, I listened to doctors’ advice, scheduled regular visits with my primary doctor, lipid specialist, and cardiologist, and took prescribed medications as directed. I tried alternative approaches, too — mega-doses of niacin, for example — and ate enough oatmeal to fill a pond.
For the most part, my doctors understood my high cholesterol was not the typical type, which responds well to changes in diet and exercise, but knew they needed support. I was referred to an internal medicine doctor who specialized in lipid disorders and saw me regularly. At each visit, she adjusted my medications -- primarily statins -- and suggested supplements researchers believed would provide protection against developing cardiovascular disease. Though we couldn’t get my LDL to normal, my ratios were good. We were doing all we could.
But in 2013, when a coronary calcium scan revealed moderate evidence of coronary artery disease, I understood it was time to ask more questions.
On my next visit to the cardiologist, we discussed possible courses of action. He mentioned tests that were more invasive than the nuclear stress test and stress echocardiograms I’d had previously, adding, “but it’s not time for those yet.”
“What we know now that we didn’t know before,” he continued, “is that you have coronary artery disease.”
“Are there any new medications that could help?” I asked. I vaguely remembered reading there were new drugs in development designed especially for those with genetic high cholesterol.
With that, I continued as I had been, more nervous now that I knew I already had signs of calcification. Could I have a heart attack at any time?What else could I do to prevent this? I had more questions than answers.
A couple of years later, my cardiologist was forced to retire early due to an injury. By then, I’d heard more about this new class of drugs, PCSK9 inhibitors, biologics that apparently worked wonders in lowering LDL to levels previously unattainable. I needed to find a doctor who understood FH and would help me secure effective treatment.
Now as I sat in the office of my new cardiologist, I took a breath and came to the point of my visit.
“I need a PCSK9 inhibitor.”
He smiled. Then he nodded.
“Yes, you do. You’ve really done your homework. Keeping records like this is so important, and they prove the other available therapies have not been adequate to get you to safe LDL levels. I’ll send the prescription in today.”
Most doctors mean well and do the best they can to help their patients, given the knowledge they have of the disorder at hand.
But in my experience, not only with primary care doctors but, in some cases, even with cardiologists, not all of them are well-versed in familial hypercholesterolemia.
I often say that it’s as if having FH is like speaking French.
For 40 years, I’d explain I spoke French, and my doctors — primary care and specialists alike — had heard of French.
Now I’d finally found a cardiologist who spoke French. In fact, he was fluent.
If your untreated LDL cholesterol is over 190, you have a family history of early heart events, and changes in lifestyle have had little impact on your levels, you may want to speak to your doctor about FH.
Photo Credit: JGI/Jamie Grill / Tetra images via Getty Images
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