I follow a number of forums and pages dedicated to FH and heart disease. Let me just say first that I am grateful that they exist. Back when I started this blog, there was no information out there about our disease and no way to reach out and meet other people like us. For this, I am deeply grateful. And I have spoken about this before (https://livingwithfh.blogspot.com/2018/09/from-obscure-past-into-bright-future-on.html)
Every once in a while I see a new person on these platforms that was newly diagnosed. One of their first questions is “if you do nothing about FH, would you automatically have any symptoms or develop any complications? Would you automatically get CAD or other arterial diseases?” And to be honest, I never know the absolute answer to these questions. I think doctors and other medical professionals should answer those and should back up their answers with research.
If I were to answer these questions for new patients myself, I can only speak about my own story and about my family’s history with FH. In our world, you do get complications, symptoms, as well as CAD even when you do things to control the disease. That is for certain. That is our certain.
This year’s been an odd one for me, with trying to understand and manage several complications. First, after two years since my heart surgery, I went back to cardiac rehab this year, to try to build some strength back into it. A stress test revealed that the bottom half of my heart (the left ventricle, really) gets very little if any oxygen during exercise. Because of this, I still have angina when I exercise which prevents me from going for a longer amount of time on the treadmill and from truly performing any cardio exercise. The idea is that with more exercise (as much as I can tolerate) more young blood vessels might appear to supplement the circulation of that part of the heart. The story of my cardiac rehab is a long one and maybe one day I will sit down to write it all. For now, I can only say I am trying hard to exercise regularly, but there are still limitations that prevent me from going so fast or so far.
Because my heart is somewhat under control, I had some time this year to address other complications that I have been living with for years now. One of them is the elevated enzymes of my liver as well as pain in the liver area. Two ultrasounds and a GI appointment later, they are still working on a diagnosis, but preliminarily they think I have something that they call tumefactive sludge in my gallbladder as well as non-alcoholic fatty liver disease. There are more tests to be done, but these are the first ‘guesses’ of the GI doctor. I asked him what could have caused this (they both lead to scary things like gallbladder cancer and liver cirrhosis) and the answer for both was “I am not 100% sure, but I think your Homozygous FH makes the most sense.” Like I said: we’re still looking for a certain diagnosis, but based on my symptoms and enzyme levels, this is the deal for now.
Also after many years, I finally found the time to remove a lipoma from my neck. I know that non-FH people could get lipomas, too, but the amount of fat they removed from my neck is unnatural, in my opinion. It was more like a quarter pound of fat than just the size of a mole. I have had xanthomas removed twice before, and the contents of this year’s lipoma looked very close to those, although the look under the skin was different than those. I cannot help but wonder if it would have ever gotten this big without the FH.
These are just some of the new things I have managed this year, alongside my existing complications that I have managed for many years now: the heart condition, the carotid stenosis, peripheral arterial disease. And all these have happened with having been on Statins for 20 years, Zetia for 10 and Praluent for two.
Like I said before: this is my story. Every one of us has a different kind of FH and a different body we’re fighting it from. I am sure there are some people out there who are lucky and never experience any of these symptoms or complications, and are maybe considering not doing anything to try to manage this disease. However, from what I have seen myself and from what I have seen in my family, I am not going to take any chances. Yes, my life is not very easy even with treatment, but I cannot imagine how much different, how much more difficult would it have been have I done nothing. Or whether I would have been alive today.
In the closing of this year I hope, as always, for much health for everyone. I also wish everyone good doctors and teams to help them understand their specific condition and navigate the murky waters in compassion and tender care.
Happy New Year, everyone!
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Blog Post by A.W.
About this Blog
In this blog I will follow my everyday journey of living with familial hypercholesterolemia (or FH). I am sharing my own experience with this inherited disorder, and how I manage it daily – from what literature I read on the topic and what my doctors say to how I live my life (what I eat, what medicine I take, how I exercise, etc). This is solely a personal account that might or might not offer some insight on what to expect when diagnosed with this condition. This blog does not offer advice, in any way, to anyone suffering from this disease.