“FH Is a Pain in the Butt. Literally.”

Blog Post from My Journey with Familial Hypercholesterolemia and Heart Disease

The title needed quotation marks because it was suggested by my husband after my latest appointment with my cardiologist. I hope after reading this post you will concur with its appropriateness.

As we all know, managing FH is a journey of discovery. You have the condition, and then you have the complications. You have some treatment and then you have some side effects that also need to be managed. Some drugs work, some don’t, some drugs work for a while and then stop. And then they need other drugs to help them up and then their little helpers stop working … After 20+ years of managing this disease with drugs I am still puzzled about what does work and why. And about what makes drugs (or other things, like diet, my body and its hormones and its natural disposition) stop working with me to keep the numbers low. I am always learning and always starting over, it seems.

I know that a lot of people who are just now being diagnosed want to know the magic trick or cocktail they need to be on that will ensure they can manage the numbers and prevent events. But the truth is, as I have found it: there is no silver bullet. It’s what works for you, and that answer can take a while to figure out. Just make sure you get good doctors that understand the disease and why and how it should be managed differently than regular “high cholesterol” and try what is available out there (there are lots of options now!), and learn your body along the way and know what works for you. That would be my advice.

And with that, yes, I am myself still looking for that magic trick that would make my numbers normal – which has happened just once since I was first diagnosed 36 years ago. As you can see below, somehow, and we don’t know why, my total cholesterol and my LDL (which is more important) were within normal ranges once in September 2018. But since they, they have been going back up. Since January of this year, we have been trying to figure out why this is. In the words of my cardiologist, “I wanna know what happened to those 60 mgs of LDL! I wanna give them back!” – but we have not managed to find a reason for this.

We know that the numbers dipped to normal levels only after we added the Praluent. So, naturally, we think the Praluent might also be responsible for the numbers going back up, somehow. We went as far as contacting the Praluent manufacturer, but we have not gotten very far with them. In the beginning they said there is no known evidence that a patient could build resistance to the drug, but the second time (more recently) when we contacted them, they said there is a very small margin for resistance (I cannot remember if they said there is 0.3 or a 0.03% chance of building resistance – is what their research shows. They said “it is not zero, but it is very small”.) The course of action now is to go to the clinic and have the nurse inject the Praluent instead of me doing it on my own, just to ensure that I am administering it correctly. They also asked me where and how I inject the drug, and I told them: I have been doing it the same way, in the side of my thigh, alternating legs every 2 weeks about the same time of the day for 3 years now. Now, the manufacturer rep said it needs to be injected in the top (not side) of the thigh, so we will try that for a while and see if the numbers change. Again, a word of caution for folks out there: the cardiologist and the manufacturer both told me again that the drugs work best when injected in a muscle and not in a fat tissue; so, not in your stomach, but in your thigh or upper arm, where there is more muscle. At least, this is the advice they gave me.

I am not aware of any other changes that could trigger these numbers to go the other direction for me, and the cardiologist did not suspect anything else to be the culprit. So, we will see. Maybe it’s time to try Repatha instead?! Not sure …

In addition to this journey, there is the parallel journey of making sure that my heart and my arteries stay healthy, or whatever “healthy” means to me. So, to ensure that, the cardiologist ordered for the first time ever a complete body scan (with contrast) of all my arteries. I say “all”, but I mean only the arteries in the trunk of my body, if you will: from my neck to my pelvis – so, no brain, and no legs.

His idea was that if the damage in the arteries in my heart was so severe three years ago when I had my surgery, then he is wondering about the status of the rest of my arteries in my body – is there an aneurism anywhere else like I had in my aortic arch? Are there any blockages that need to be opened up like the four that needed bypassing in my heart?! What exactly is going on?!

The test showed, as you would suspect, atherosclerotic disease of various severities pretty much in every artery scanned. Very few had mild disease, but most of them had moderate, or moderate-to-severe disease. The worst (moderate to severe) are my thoracic and my abdominal branches of my aorta, where “the infrarenal abdominal aorta in particular is severely narrowed down to a minimum cross sectional diameter of 0.6 x 0.6 cm just above the takeoff of the inferior mesenteric artery.” I am told that this diameter would be equal to about a 70% blockage. The severity seems to match the one in my carotids, which is between 65-75%. Just like the carotids, the course of action here is to do nothing right now, and just to repeat with an ultrasound every year and ensure that the blockage does not become bigger. If it gets closer to 90% then surgery for a graft or a stent might be recommended.

The doctor said that if this blockage would cause symptoms, because of where it is located (right after the aorta leaves the kidney area and before it splits to go to my legs), I would notice a sharp pain in my buttocks. I don’t notice that, but I do have pain in my calves when I exercise – he said he doesn’t think that pain is related to this, because my buttocks would also hurt in this case. Hence, the title of this blog.

So, as of right now, these are the things I need to watch pretty much every year for as long as I live:

  • Cholesterol numbers (every 3-6 months, typically, but we’re doing them more often now because we’re trying to figure out why they have gone back up)
  • Liver enzymes (every 3-6 months)
  • INR (weekly) for the health of my mechanical aortic valve
  • Heart echo (yearly)
  • Carotid ultrasound (every 2 years)
  • Thoracic and abdominal aorta ultrasound (every 1-2 years – this is new and the cardiologist will confer with a vascular surgeon before he sets a definite schedule).
Of course, at any given time when a new symptom comes up, he orders other tests, as well.

Some might say that FH and all the complications that come from it is a full time job. I prefer to look at it as a life style: it is part of our bodies just as much as the color of our eyes. We, people who have it, learn to incorporate all this knowledge and all the tests in our daily routine. We need to know that along with vacation once a year, we need to make time for a couple or three echos and 3-5 blood tests. Plus, daily medicine and a healthier than average lifestyle. Knowledge is power and knowledge and taking advantage of the medical developments out there will give us a healthier and fuller life. None of us have control over the length of our lives, but I at least try to have some control over the quality of what I have left.

I am grateful that we have the tools that allow us to know and manage this disease. We can be mobile, aware, and do pretty much everything we want to do in and with our lives. There are millions of patients out there suffering from so many other afflictions that do not get this lucky.

Onward, all! It’s the only way …

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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.

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