Happy New Year, everyone!
I cannot believe I am starting my 15th year of blogging about FH. I started this to share my journey (the tests, the diagnoses, the ups and downs, the successes and the failures) with those people who might find out for the first time that they have FH. My commitment was that if even one person finds the information here useful, it is worth my time to share my stories. Over the years, I have heard from many folks that this has been so helpful to them, and that they either learned about a new way of managing their diagnosis, about a new test, or a new medicine, or that they just felt a little less alone. My job is done, really, but it is your merit as much as mine. Thank you.
This is one of those stories - where I share yet another event from my everyday life and hope that you find it useful. I have an abdominal vascular ultrasound scheduled every year, to monitor the progress of my abdominal aortic ischemia - both my superior mesenteric and my celiac arteries in my abdomen have several stenoses where the blood flow is severely reduced. As of last year, one of the stenosis has developed a dilation which is (the way I look at it) a precursor to an aneurysm. We don’t want aneurysms on any blood vessels but especially not on any major artery branch, like the aorta, celiac or mesenteric arteries would be. I also have a narrowing in my abdominal aorta.
This test is usually ordered by my cardiologist. I have seen vascular surgeons before, but since I changed my cardiologist in 2024, this new person decided it’s not bad enough for me to see a vascular surgeon yet, but that he is able to read the results and determine if one is needed at any point. Since my massive open-heart surgery in 2016, the sentiment of all the doctors that I have seen for my arterial disease has always been that “it’s bad, but not quite bad enough to do something.” The “something” would be a repair, or a stent, or a balloon, or a bypass of some description, for example.
Last year, for the first time, they actually saw the dilation. I asked the cardiologist if this was not worsening badly enough that it would grant seeing a vascular specialist (usually a vascular surgeon). At the time of the appointment (in November 2025), he said “No. Not bad enough, but next year we’ll definitely see one if it looks any worse, even by a little.” All right.
And then, about 2 days after that appointment, I got a call from his office that in fact, he does want me to meet with a vascular surgeon as soon as I can. All right. I totally agreed because in fact I had wanted this for years. So, long story short - I got an appointment with a vascular surgeon and she ordered an abdominal ultrasound which happened today.
I just do as I am told, and got the ultrasound like a good little patient, but for years, I have done abdominal CTs for the abdominal ischemia. So, I was a little puzzled why they asked for the less in-depth, lesser-visibility test, but hey, I am no doctor. So, I went in.
As she silently watched my messy mess of abdominal stenoses (I am sure!), the technician asked a lot of questions about why I was there, how come the doctor ordered this test and such. I explained to her about FH: your body’s genetic inability to process and eliminate surplus cholesterol. I also explained to her that it’s not from eating a bunch of burgers all day long, but it is just from this weird anomaly in your genes that you are born with. I mentioned that this is genetic and inherited from your parents. I explained about the more common version of this disease (the HeFH) when you inherit just one bad gene from one of your parents, and the less common one, when you inherit two bad genes from both of your parents, and I mentioned mine was the latter kind. This is why I have had the massive vascular problems since a very young age.
She asked me if I had any history of vascular accidents in my family, any history of aneurysms myself, or any history of strokes and heart attacks. I told her yes on all accounts. Lots of examples. I also told her about dad’s peripheral artery disease and many strokes including the massive one in his brain stem which took him out at 70.
She asked more questions. So, I said “I am guessing they did not teach you about FH in your medical education?” She said: “You know, you would think that someone would have taught me about a disease that causes this much vascular disease since I am a vascular disease tech imaging specialist. But no, this was never mentioned in my medical education.”
She said the first time she ever heard about FH was from her boss who found out about it from her dad. Her boss’s dad had passed from complications from FH and he didn’t know he had it. Her boss (I am guessing she might be a doctor? But not sure?) finally understood why her cholesterol had been high all her life and now is on proper treatment for it and she is working with her kids and grandkids to diagnose and manage this disease better with fewer events than she had witnessed in her dad.
Then, the technician shared that her own husband, his dad and his dad’s mother also have had high cholesterol and both heart disease and liver disease (fatty liver) and she wondered if this could be FH. She mentioned that they did go to the doctor with her husband’s cholesterol levels because they are high, but the doctor told him to watch his food and exercise more. She said as a family they all changed what they ate, and now they eat less fat, more lean meat, exercise more, and she cannot even think what else she could change, but her husband is not overweight and his numbers are not coming down at all. She asked me “could the cholesterol be high for a different reason other than FH?” Again, she is asking me something her doctor should have told them already.
I told her that I definitely don’t have a medical degree but in my knowledge of FH, high cholesterol levels that do not drop with lifestyle changes plus a family history of heart disease (or stroke) usually means FH. Which means her small children will need to also be considered having their levels checked and run by a specialist, just to make sure.
She asked if the only way a positive FH diagnosis can be established is through a genetic test, and I told her that generally a genetic test would definitely confirm it, but that those two things alone (high levels and family history) should be enough to get medication to see if the levels could be controlled better. I told her about The Family Heart Foundation and how they have a wealth of information on their site (I encouraged her to just google them and find out more) about where to start and they should be able to answer a lot of her questions. She said she has a pediatrician appointment with a blood draw scheduled for her children soon and she will definitely ask them if they could add a cholesterol check to it.
One thing I noticed just today, after half a million of these ultrasounds and CT scans (exaggeration here, as you can imagine): every single time I go in to have these tests, they always ask me whether I am there because I had an event (like a heart attack, stroke, or a burst aneurysm). And every time I tell them that I have had some of these events (heart surgery, heart attack, plenty of family history of all of these), but that the reason I am there is so that I can prevent an event. I am there to keep an eye on the vasculature so as not to allow (if I all can) for an aneurysm to burst or a heart attack to happen. Mostly, I get blank stares and absent nods. I have told new doctors before that my philosophy with managing my disease is to prevent the fire and not to put out the fire when it happens. Some people grimace and move on and I can see the puzzlement, but I keep pushing with every doctor and every appointment for what I know to be right. I know because I have lived it. I am here today because I was able to fix my heart before it got a chance to explode on me.
I hope what she saw in my arteries spoke about the seriousness of this disease. I explained to her that for half of my life I did not have access to any cholesterol-lowering therapies, and that this is what happens when huge amounts of surplus cholesterol just circulate in your body. She paused and then her questions poured out ...
The results came back later today and I have a 70-99% stenosis in my superior mesenteric and celiac arteries and a 3mm post stenotic dilation in the celiac artery in addition to this. Also, my abdominal aorta is narrowed. This is the first time when they actually measured both the stenosis and the dilation. Until now, they described them as “mild” which over the years turned into “severe”. Now they are described as “severe” but we also have numbers. My vascular surgeon appointment is set for next week.
Like with this blog - I hope I helped one person today. Or as it is the case with FH: I hope I helped a family.
Take good care and here’s to a healthy 2026!
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