The Wins and Up-hill Journeys of 2023

Boy, it’s been an interesting year, to say the least. But then again: aren't they all?!

At the end of 2022, I lost my dad to several massive strokes (I spoke about this in my first blog this year - https://livingwithfh.blogspot.com/2023/01/new-year-new-thoughts.html) . Always the overachiever, he could not get just one stroke when his time came. Instead, he stroked in every area of his brain - small brain, large brain, and the brainstem, for safe measure ... All because of atherosclerosis due to untreated FH. 

This past year’s been largely spent in the shadow of this very, very dark and sad event that I started the year with. Dad was my beacon, the guiding force in my life ever since I can remember. Without him, I have felt like someone just turned the lights off all around me and I have been feeling around, trying to figure out how to live in complete darkness. 

It’s been a year of emotional un-health for all of us left behind, but mostly for my mom, for me and my sister. Our center, our patriarch is gone and the balance is off for all of us. The common belief in my family is that I am the strongest one. So, I have tried hard to be here for my sister and my mom. But even the stronger ones need strength - and I have surely felt this this year and have struggled to find it ... Trying to stay mentally afloat has been hard. Working and focusing on my physical health have been good distractors. 

My physical health has not been the best, but I’ll have to say it has not been the worst in my life, either. I am grateful for this. At the end of the day, truly, I am just simply grateful for another day. A friend of mine living with lupus has said to me something like this year “doesn’t every day feel like a victory?” - and she is so right. 

I am happy that I made it into the last days of 2023 - here I am adding another year to my life bouquet. Remember, I was told I was not going to make it past 18, or 25 at the most. Here I am stepping into my 49th year next year - God willing! This is definitely the best accomplishment of this year and of my life, really. The fact that I have stayed away from the ER and the ICU this year are the cherries on top! 

As I am looking back and drawing the line to close out this past year (something my dad always did), I think of all the good things, but also of the let-downs and disappointments about my health this year. Worth mentioning:

• We still have not figured out if my GI issues are caused by abdominal stenosis or not. We are still investigating this with both specialists (vascular surgeons as well as a GI doctor). More tests to come. I can only hope that it is not my stenosis because a whole year is a long lease if my gut is not getting proper blood-flow. 
• We have not figured out my dizzy spells. After years of my cardiologist refusing to do a scan of my brain blood vessels, I have finally gotten a vascular PA (that is right, not a surgeon, but a vascular PA working for a vascular surgeon) to admit that a head CT is past due for my advanced atherosclerosis, family history of strokes, and for my symptoms of dizziness that no other tests could elucidate. So, the test is coming up but it has not been done yet. I hope we find out something ...
• We have made almost no progress in improving my shortness of breath, despite achieving some good heart numbers this year ... (more about this below). I still get very winded when I do very light chores around the house. Climbing a hill or walking is much worse. 
• My cholesterol values started climbing, despite continuing the same combination of drugs that has been beneficial in the recent past. No idea why the numbers are up, but I wonder if stress has something to do with it ... The LDL cholesterol is 144 mg/dl (up from 101 mg/dl last December) and my total cholesterol is 210 mg/dl (up from 164 mg/dl last December). 
• Despite this trend, I am still waiting for my clinic to approve my Evkeeza treatment. Apparently, the insurance approved it but the bureaucracy of the clinic itself of trying to figure out how to manage a new drug as an infusion is crazy complicated. So, we are still waiting. We're also waiting for my liver to get better.
• To that point: my liver enzymes are also climbing. They have gotten as far as more than three times the upper limit (the AST and ALT values). They tell me they need to be much, much higher than these numbers for liver failure, but they are still concerned and trying to figure out what’s happening.
  
  We have been trying for months to stabilize them and they remain high as long as I am on a statin drug. I am planning to come back with a more detailed post about this, but I am currently “playing with drugs”, as I call it - trying to turn meds on and off and see what will keep the liver levels down and get the most benefit for lowering the cholesterol too. So, until I have the full picture and until we pin down what’s causing this and what drugs I will be on going forward, I will keep the confusion to myself for now.
  
  Right now, they have stopped the one statin that works best for me (Atorvastatin) and they are asking me to take a lower strength of a less potent statin (Pravastatin) to see what the liver is doing next. When I take no statin at all, the enzymes are normal.
  
  We have not checked the cholesterol levels during this trial-and-error period, but logic and experience tells me the levels are high, even higher than the ones listed above. The levels I wrote above were trending higher when I was on the full-strength of all four medications I normally took for cholesterol (Lipitor, Zetia, Praluent, and Nexletol).  Of course, the longer I go with higher cholesterol levels the worse it is for my vascular and heart health. But I’d rather not add liver damage to my laundry list of problems, so I am willing to try this new experiment to revamp the drug cocktail I am on.
  
  I wondered if stress has something to do with the liver functions too, till I saw the liver enzymes come to the middle of the normal range only by stopping the Atorvastatin for 10 days! 

Despite all these setbacks I have had some brighter spots this year too: 

• I finally made some progress on Evkeeza with my cardiologist. The jury is, of course, still out on this newer than new drug, but I am hopeful it will do something (good) to my numbers!
• Earlier this year I barely got the doctor to pursue setting me up with this (https://livingwithfh.blogspot.com/2023/08/access-to-newer-treatment-might-not-be.html), and now I am waiting for my liver numbers to stabilize before we introduce the new drug, but the clinic is finally ready to start. 
• I have managed for another year to keep my carotid stenosis at a lower than 50% amount of plaque build-up. After having had it as high as 65% in the past, having the readings come in as 50% or lower than 50% in some areas is an accomplishment. (The theory here is that Praluent has helped with stabilizing and stopping the progress of the plaque - just a theory from doctors). 
• I had a xanthoma successfully removed from under my eye (https://livingwithfh.blogspot.com/2023/12/xanthoma-removal-surgery.html) . This is the fourth fat deposit (most likely caused by high cholesterol) that I have had to remove in 48 years. 
• I have finally (after two years of trying different treatments) pinned down the right drug and the right dosage for my blood pressure and I have improved my BNP number (which shows the severity of your heart failure).
  
  What is even better than seeing lower numbers of the BNP (still not normal but lower), is that I feel better, especially when I walk. In normal weather, my angina and the cramps in my extremities are much less than they were before I started Amlodipine. My BNP has come down from 692 pg/mL (end of last year) to 323 pg/mL this past September (the normal values should be under 190 pg/mL). In weather that is too hot (above 80 F or too cold (low 40’s or lower), the angina and cramps are still pretty bad ... And the shortness of breath has not improved. The blood pressure numbers are more often “normal” with only weekly spikes (as opposed to daily). I take the little bit of good news where I can. 

All is not perfect. But all is not bad ... One foot in front of the other and I hope I can live another year to tell that year’s tale going forward. 

From all the good that’s in my life, I am most grateful that despite all the (un)health bumps,  I enjoy a full life, with good people, good food, and lots of travel and freedom to move about. Yes, being tied to a pill box, a blood pressure taker, a bi-weekly injection pen, an INR meter is not a completely care-free life, but I am never taking the freedom to move my body and drive and jump on a plane for granted. They are precious gifts! 

Going to New Orleans for Thanksgiving was one of the highlights of this year - here is me, in the French Quarter on Thanksgiving night: 

Other adventures included visiting three very different national parks for the first time (Saguaro National Park in Arizona, Indiana Dunes in Indiana and Jean Lafitte in Louisiana), two Frank Lloyd Wright homes (Taliesin West in Arizona and the Westcott House in Ohio), going to Europe and celebrating mom’s 70th birthday, spending a week with my nephews in the summer and taking them to their first baseball game and their first musical (Wicked), among other fun things. So looking forward to more adventures!  

I wish each and every one of you reading here much health and strength. They are so important to keep us going. Whatever makes you happy or makes you whole - hold on to that and you’ll stay afloat! 

Happy New Year! 

Xanthoma Removal Surgery

A little behind on this post: at the end of October, I had a xanthoma (or it could have been a lipoma, or a fat deposit - the jury is still out on what exactly they wanted to call it) removed from under my left eye. This was the fourth fat deposit that I have had removed or treated in my 48 years. They are pesky things that show up on various parts of your body if you live with high cholesterol. They show up small, in the beginning, and if left alone they grow sometimes to a painful or an esthetically displeasing size. 

I had one removed from the tendon in my right elbow when I was in my early 20’s, a xanthoma removed from my eye lid in my mid-20’s, a large (bigger than a golf-ball) fat deposit removed from my neck a couple of years ago, and now this last deposit from under my left eye. The surgeon called it “a mobile orbital mass, firmer but consistent with orbital fat” in his post-op notes. Regardless of what you call it, the surgery to remove it might be similar to what happened here.

I am usually nervous about any procedure that puts me under general anesthesia because I just never know how my heart will behave during the drug-induced “nap”. This time, it didn’t help that the anesthesiologist did not agree with the surgeon on what type of anesthesia I should be under: the anesthesiologist wanted a light anesthesia, where I am coherent and talking back but not remember much and the surgeon wanted me “completely out”. The surgeon won, eventually, and I agreed with him (general anesthesia is usually my least favorite kind), considering how he went in to get this fat deposit: he had to make an incision behind my cheek’s skin, in my internal lower lid. He recommended general anesthesia so I would not move during the procedure and cause any other complications. And I agreed, although I am sure I didn’t have much choice if I wanted the surgery. 

I had a black eye for a couple of weeks and I still feel some firmness in that area, possibly from the scar tissue, but the visible bump is gone from my face, so I consider this a success. The deposit he pulled out was small compared to the ones I have had removed in the past - the one I had removed from my eye lid of the same eye when I was younger was probably the smallest. This year’s “fat mass” was actually made up of two pieces measuring 0.8 x 0.7 x 0.4 cm and 1 x 0.5 x 0.4 cm, so anywhere between half and one full centimeter each. 

I originally went to a dermatologist for this growth but he would not touch it because it was too close to my eye, so he sent me to an ophthalmologist. I tried to make an appointment directly with an oculoplastic surgeon, but the clinic would not have it. They said I need to see a regular ophthalmologist first and let them decide if I need a surgeon. I told them it’s useless and pleaded to please let me skip a useless step and make the appointment (in the same clinic) with the right specialist, but they would not budge! 

So, I went to a regular ophthalmologist who decided my vision was just fine and who ended up referring me to their coworker who is an oculoplastics surgeon who finally performed the procedure. I tell you, the mystery and the maze of the medical world never ceases to surprise and bewilder me ... 

Here are the before and after pictures and if you can’t really tell where the bump was (under my left eye in the picture to the left) you’re not alone. It was not very visible but it was palpable and I knew it would only grow bigger, having had the experience of at least two other ones that got enormous and prevented function in either my elbow or my neck. To prevent scarring too badly when it ended up being much larger, I decided to take care of it now. The surgeon agreed.

In the first picture, you can see it under my eye, closer to my nose. Click the picture for a larger view.

Just another procedure that us, FH folks, might have to tackle. 

Much health, all!

The Loss of the Blood Sample

This will be a short post just for a bit of comic relief, I hope. 

Well, it finally happened to me too! 

I have been at this for a really long time. 40 years to be exact, this year! I should have had a party or something but I didn't. 

I have felt like a pin cushion with many doctors repeating the blood tests because they could not believe my numbers were real. I have felt like a Guinea pig trying to figure out what drugs and what diets might work for me, often with little or no results, often disappointed, especially in the beginning. Often feeling empty, because if all the science in the world fails you, what hope is there?!  

But I always manage to fight back with what I can. I always think that knowledge is power and even if I don't have all the answers, and even if there are no drugs to cure me and magically prolong my life, I at least know what I have to do: I need to know my body and my symptoms better than anyone, I need to always advocate and insist on getting tested every year to learn and know the progress of my atherosclerosis, before this disease throws me into some sort of "event" from which I may not come back ... There are ways to stay on top of this, even with bad numbers and no treatment at play ... 

I have fought with insurance companies, and bureaucrats who think they know better than medical professionals what is best for me, even when they had no medical code for my disease. 

Of course, every failure of a drug working or every encounter with a doctor who does not know their stuff and refuses to learn me as the patient with a unique history that I am, every battle lost and appealed with the insurance company is frustrating and sometimes even maddening. 

I have been embarrassed in the hospital when recovering from open-heart surgery when I could not so much as walk to the bathroom by myself and I did everything in bed ... Oh, I have many stories ... I know this disease is not for the faint of heart - and no pun is intended. 

But till this week, I have not had this happen to me ever before. I have heard of people going through this, but never me. 

They lost my blood sample! 

As every FH patient knows, the only way we know what our numbers are and what our livers are doing if we choose to be on some of the treatments that cause liver damage is with a "simple blood test" - the literature will tell you. Well, except it turns out that these blood tests are not ... so simple, after all. 

I am going through a bit of another Guinea-pig moment (for the umpteenth time in my life!)  where both my cardiologist and my PCP are playing with my drugs and every two weeks I have to go in for blood tests to see how they influence my liver numbers (which are high lately, but we're not sure why yet). So, every two weeks, I go and have a blood sample drawn to see where my liver numbers are after they have switched (added or removed) another drug in my cocktail. 

This has been my routine for the past two months (I have one more blood test later this month and then we make a decision in January about what drugs I will be on). So, this week, I went to my bi-weekly blood draw and the "regular" blood test results failed to post in MyChart the following day (which they have always done for the past 6 years since I have been seeing these doctors). 

I knew something was wrong from the minute I left the office when they drew the sample, because the phlebotomist printed the wrong labels first - they had my name on them but the wrong tests. I thought it was an easy mistake because I have several standing orders from two doctors in the computer and they are very similar. But then, she reprinted the labels and never asked me to check the information on it, like they normally do (name and date of birth). At the end, she had the label at the bottom of a tray with a bunch of throw-away junk. They usually stick the label on the bottle before I even leave to ensure I see this being done and to feel confident that the sample truly is submitted. But not this time. This time, she shooed me out the door with "have a nice day, ma'am", my sample sitting in a tray full of garbage and no label on it either ...  

I called three days later to inquire where my blood test results were. After I had to put up with abuse of the sassy and not-so-helpful receptionist who ensured me sometimes it takes longer than 72 hours for blood tests to be processed (and after I ensured her that not for this blood test!), she begrudgingly took my complaint and number down and ensured me "someone from leadership" will call me back with an answer. 

The nurse (I guess the nurses are now "leadership" too? Good for them. They deserve it!) called me to apologize and tell me they have a record of me coming in and giving the sample but the lab has no record of my blood sample ever being received. 

"We are so sorry, ma'am. Can you please come back now and give us another sample? Do you mind?"

Of course I mind but I have no other choice. So, I dropped everything at work and drove myself back to the clinic and gave another sample in my bruised right arm (the only one with the good vein). An hour and a half later, they had a fresh sample which I was hoping had better odds of reaching the lab than the first one. 

So, here I am, inaugurating another bump in the road of a perpetual patient: the loss of the blood sample. Hurray! 

I won't ask "what's next?" because I know I am asking for trouble! 

Abdominal Stenosis

As I mentioned in my previous post (https://livingwithfh.blogspot.com/2023/09/old-test-new-reaction.html), my cardiologist and the vascular surgeon ordered a CT scan with contrast of my abdominal aorta. This test was done in 2021 and it showed several areas of atherosclerosis of basically every branch of my abdominal aorta. 

Now, two years later, it shows the same areas of problems - some of the areas look stable (yay!), and some are slightly worse, or show new developments. For example, I have developed “collaterals”, which means additional (new) branches of the abdominal aorta that naturally grew to bypass the areas that are stenotic. So, the fact that the collaterals are there at all, to help with the proper irrigation of the gut area, is good, but the fact that they had to form at all says the original branches don’t provide proper circulation to the abdomen. 

In addition to the stenoses caused by the calcified plaque, because this is me, and I am not easy,  I also have a congenital defect of my celiac abdominal aorta called “median arcuate ligament compression“ (or MAL compression) which is rare condition in which the median arcuate ligament compresses the celiac artery which impairs blood flow to the liver, stomach and other organs. The median arcuate ligament  is the muscle and fibrous structure that wraps around the aorta at the diaphragmatic opening. So, this compression in addition to the atherosclerotic celiac artery causes a reduced flow to my abdomen. 

Here are the test results of the two scans, over the past two years: 

The December 2021 abdominal CT scan results show the following: 

• Small caliber abdominal aorta with extensive soft and calcified plaque

• Narrowing of the infrarenal abdominal aorta

• Two areas of moderate to severe stenosis in the proximal celiac artery and atherosclerotic plaque at the ostium and compression from the median arcuate ligament (MAL) with mild poststenotic dilatation. 

• Mild stenosis at the origin of the small mesenteric artery. 

The September 2023 abdominal CT scan results show the following:

 

• Stable: Severe calcified and noncalcified atherosclerosis of the entire abdominal aorta which is overall small in caliber, unchanged.

• Stable: There is mild to moderate relative narrowing of the infrarenal abdominal aorta at the inferior mesenteric artery, also unchanged.

• Slightly worse: Severe stenosis and angulation of the proximal celiac artery likely owing to a combination of atherosclerotic plaque and the median arcuate ligament (MAL) compression. (previously: “moderate to severe”)

• Slightly worse: Persistent moderate stenosis of the proximal superior mesenteric artery (previously: “mild”)

New (good and bad): 

• The presence of arterial collaterals between the celiac-superior mesenteric artery and to a lesser extent the superior - inferior mesenteric arteries territories suggest the presence of long-standing, hemodynamically significant stenosis in at least one of these vascular territories. 

In this scan, the white part to the left of my spine is the calcified aorta. The smaller vessels springing from it are my celiac (the one in the shape of a backwards L which shows the MAL compression) and the mesenteric arteries. 

Although the tests seem virtually unchanged, I have new symptoms that could be related to the various stenoses in my abdominal aorta. Some of these symptoms are a fairly consistent upper-abdominal pain, which is worse after I eat; the feeling of being “full” even when I first wake up in the morning and I have an empty stomach; occasional nausea with even mild exercise, softer and more often stools. 

When I went in to the vascular surgeon this past week to review these results, the surgeon got called into emergency surgery and was not able to make our appointment. I spoke, instead, to one of the PAs (not his own PA, who I knew and who knew my case, but a new one), and having just seen me for the first time, he said that the new symptoms worry him and he will need to chat with the doctor and see what, if anything, needs to be done next. But he also said that in his opinion, the results are not much different than the ones from two years ago, so the symptoms might not be related to the stenoses. 

I also mentioned that I have been examined by a gastro-enterologist earlier this year, to ensure none of these new symptoms are GI related and they are not, according to those tests. He said he will follow up with them and then he and the vascular surgeon will follow up with a plan, if there is anything to be done differently. At the very least, he suggested that I’d move the scans to every 6 months rather than every year to keep a closer eye on the abdominal aorta. 

Because the risk of too much radiation during a year’s time is there, he suggested I’d alternate between an ultrasound and a CT scan, every 6 months. Although I dread all these different tests (I have another one for my carotid arteries and another one for my heart - both yearly), I know that keeping a close eye on these conditions is really the best way to catch some huge change in time, before having an event. If my annual heart echos taught me anything before I had my open-heart surgery, they taught me this. 

 

Old Test. New Reaction.

One of the reasons that prompted me to start this blog was so that I can share with others the many different tests and interventions I was going through with FH. I sometimes felt like a human guinea pig - and I still do, 40 years later, with every test and every new drug they send my way. 

In addition to the quarterly lipid and liver panels that I have had done since I was 8, many other tests and investigations were added after FH had caused atherosclerosis and heart disease: yearly ultrasounds, CT scans and MRIs, every-five-year angiograms, yearly ABIs, which are like a radio-wave test (I think) checking for narrowing of your peripheral arteries. To say nothing of all the X-rays for every cough you can’t explain. 

I wanted folks that might be diagnosed with FH to have some expectation of what tests are needed or required and for what purpose. 

Every type of radiation ever invented, I believe, has gotten through this body at various intervals. I know not to wear my jewelry (or anything metallic) when I do an MRI and I know that the CT contrast solution will make you feel like you just wet yourself. 

When the technologist walks you to the CT/ MRI/ X-ray/ Ultrasound room and asks (they ask every-single-time) “have you ever had a CT/ MRI/ X-ray/ Ultrasound before”, I roll my internal eyes and always say “yes”. I know that I am not allergic to the dye in the CT exam and that I taste metal whenever they flush the IV lines with saline. I know I am allergic to the glue on the EKG stickies as well as the glue of medical tape, after they tape up the IV to my arm, or after they pull the IV line out or collect blood samples from me and apply pressure to send me home, covering the gauze with said tape. 

After all these years (40 years of FH and about half of those of heart disease), I pretty much know the drill at every test and I know my reactions, or lack thereof for every test. At least I thought I knew everything. Till today ... 

Today, I had to get a CT scan (with and without contrast) of my abdominal aorta. I knew the drill: they would put an IV in, make me take my bra off and my belt if I had one (I didn’t on purpose), make me lie on a table and put my body through a donut looking machine, move the table with me on it in and out of the donut a few times, tell me to hold my breath a couple of times, and at the half-way point inject the contrast solution in my veins through the IV. They asked me if I have had the test before, and I said yes. They asked if I had ever reacted in any way to the contrast solution and I told them no, but that I hate that it makes you feel like you lost control of your bladder. They said, well, yeah, they can’t do much about that (actually, they can do nothing at all about that unless they put you to sleep but they won’t do that). 

So, we go through the motions. The tech does the first part of the test (no contrast), and then she warns me that she will send the contrast in and she’ll do the test again. All I was expecting was the really warm feeling when the solution goes through my bloodstream and the crazy sensation I have told you about. I knew it should be about 2 minutes and then it’ll all feel normal again. 

Only this time, it was different. This time, that warm sensation did not last for two minutes. After about a minute it got worse. And was getting worse and worse as time went by. It was not just the warm feeling, but my head felt like it was about to blow up. My face was numb and felt paralyzed, and the ceiling of the room (all I could see when lying down) started spinning. The table felt rickety and shaky and my head was so hot I thought it would implode! I kept thinking “I am dying! Oh, Lord, this might be it! I am losing my consciousness and I am surely dying.” It lasted for what seemed like forever, although I am sure it was more like 10 minutes. The tech came in and I was not moving and I could not even answer her. I heard her voice but I didn’t know what she was asking. I vaguely heard her asking if I was OK, and I faintly said “I don’t think so”. 

After I explained to her what I was feeling, she took me to a different room and sent a nurse to come and take a look at me. My speech was slurred and faint, like in a whisper. 

The nurse evaluated my symptoms and concluded that what I was having is what they call a “physiological reaction” - not to be confused with an “allergic reaction”. She said with an allergic reaction, my tongue and throat would swell up, I would have hives and start sneezing and have an itchy face or body, but I was not having all of this. Instead, I was having something similar to a head-rush because the contrast was injected at a high speed. She said your body is kinda confused and trying to tell you “oh, no, what just happened?” - because it got too much dye too fast in a short amount of time. 

She said CT contrast is injected at various speeds and different tests in different areas of the body ask for different speeds. The abdominal CT tests require a higher speed and this is probably what happened. She said there is nothing they can do to prevent this other than just lower the speed. But she said sometimes this is not possible because lower speeds might not capture clear pictures. 

The nurse said for an allergic reaction, they can give you Benadryl, but for a physiological reaction, there is nothing but awareness and taking it easy after the reaction happens ... 

She said next time I am getting another CT like this to warn them that the higher speed will make me loopy but to expect that there is not much they can do about it. 

I was wearing a mask in the office and all I wanted was to be out and breathe some air without a mask. She offered to keep me in the office for a bit as I was still dizzy, even after 20 minutes or so from the test. But I walked out, holding on to walls and slowly making my way to my car. It was another 20 minutes in my car till I felt well enough to drive. 

Even after I got home (45 minutes later from waiting in the car for a while), I was still in a fog. I was still dizzy and unstable on my feet, and after having some lunch and feeling a bit stronger I felt completely drained for the rest of the day. 

I am posting this just as a personal account of what can happen over time - no two tests, I guess, are alike, even if on paper they are virtually the same test. The nurse said anything can happen with time. Your body changes, your body’s tolerance for things changes and the factors that influence your body at the time of the test are always changing. I might have been fine all these years getting CT scans like they’re a fun pastime in the photo booth at the fair, but my body is different now and it can react differently than ever before. You just never know. 

I don’t think I’ll ever discount any new “old” test that I am going to have from here on out - and will look at it with new eyes and know that anything can happen. 

And oh yeah, the tape they stuck on me during the IV and after they pulled it out did break me up all over, but at least this part I was expecting. 

Access to New(er) Treatment Might Not Be As Cut-and-dry As You Might Expect

Disclosure: I just want to say, as usual: I do not recommend any of the drugs mentioned in this blog post. These are solely my own experiences, research, and conclusion at this time. Mine, and no one else's. No drug companies or medical facilities contributed to or are to benefit from the opinions listed here.

Also, I would like to mention that I am aware of the privilege I have to have options and choices for treatments. Millions others (without exaggeration) are not as fortunate as this.

As you might remember, back in May (http://livingwithfh.blogspot.com/2023/05/treating-heart-disease-haggling-style.html), my LDL cholesterol was 125 mg/dl. This is hardly “acceptable” for someone with my load of risk factors (previous heart surgery, heart attack, family history of strokes and heart attacks, and almost 20 years of coronary artery disease). My target LDL is 70 mg/dl at this time - lower than a person with no risk factors. 

But with FH, especially with Homozygous FH, it’s what you have to settle for, most often. Maybe you cannot ever get to your target levels, but you can reduce the untreated levels massively - as it happens in my case and just call it your best effort. Last time my cholesterol levels were measured without any medication, my LDL was 475 mg/dl. Coming down to the current 125 is clearly an achievement not to be contested, I think. 

But could we do better than this?! I have heard of first-hand reports from HoFH individuals that have tried the new drug Evkeeza (https://evkeeza.com/s/) that they managed to reduce their LDL down to as low as 50 mg/dl. Evkeeza is in the class of drugs called “ANGPTL3 inhibitors” and it reduces the levels of all three major cholesterol-related fractions (LDL, HDL, and triglycerides). There is still no proof that it does reduce the advancement of atherosclerosis or cardio-vascular disease, but from what we know about high lipids, reducing their levels normally triggers the reduction of atherosclerosis. But this is just a hypothesis at this time in the history of FH drugs. 

The drug is approved only for Homozygous FH, at this time, but given my diagnosis (https://livingwithfh.blogspot.com/2017/08/the-long-journey-to-hofh.html) of HoFH, this seems to fit the bill for my case. 

As you might also remember from the post back in May (linked above), I usually have to haggle with my cardiologist for the right treatment.  Evkeeza is a relatively new drug. It was approved by the FDA in February of 2021. I asked my cardiologist about it in July 2021. At that time, he did not know anything about it. I asked again last year and he came back with the same answer and only evasively agreed to look into it. He suggested I might be eligible for Leqvio (Inclisiran - https://www.leqvio.com/) which is a PCSK9 inhibitor (similar to Praluent or Repatha) but given in a different dosage and with a different frequency. If I were on Leqvio, I would need to stop the Praluent that I am on now. If I were on Evkeeza, from what I know from my own research, I would be able to add it to my current drug regimen (http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html). This way, I would receive the lowering benefits of all the other medications I am on, since they have different mechanisms of action. 

I tried asking my doctor again this May (2023) if I could qualify for Evkeeza. At that time, he begrudgingly said “well, I guess I can look into it, but I have no idea how hard it would be to get your approved, and I don’t even know if you would get approved.” 

I asked him to explain: I have a genetic test that shows clearly I am a Homozygous FH patient; I have lots of risk factors proven by a long history of atherosclerotic events, I have the family history, I have a worsening heart (according to the stress test that he did last year there is increased damage to the heart muscle, possible from completely closed capillaries - he speculates), and I am on four different therapies for lowering cholesterol and my LDL is still not at target. 

I asked him how he make it that I would not get approved? 

He said something like (or asked, rather):  “do you have a written test result that shows that a medical institution confirmed the HoFH diagnosis?”. It took all of my might not to scream when I heard this question and not to literally slap him. 

But I like to give people the benefit of the doubt and acknowledge that I am not their only patient and they have a busy schedule and no time for research, but still. The genetic test was one of the first documents I showed him back in 2018 when we first met. Plus, he had asked me for the “written genetic test result” several times when his office got me approved for Praluent and Nexletol (these are not medicines approved only for HoFH but the accurate diagnosis was needed to get the approval in both cases). Both times, his office confirmed that they would scan this test result into my records so it would always be on file. Either that didn’t happen, or he doesn’t read my files? It’s anyone’s guess. 

So, I sent him a new copy of my genetic test. This was in May. He said he would “look into it” and I never heard anything since (three months later). I asked for an update a couple of weeks ago and I finally got a note from him a week later: “Looking into it.” 

So, as of right now, I don’t know whether I qualify for Evkeeza (I can only guess with a strong file built by someone who understands my disease I might), nor if it’s even recommended for me. He never so much as said that it might not be good for me, for one reason or another. All I know about this drug is what I have found in my own research. 

But it irks me to no end that a treatment option might have been out there for me, for 2 years now, and I am not taking advantage of it. Especially with my heart condition still worsening ... 

In this disease, time is truly of the essence and the older we get (as we all are), the harder it will be to stave off the advancement of artery disease when LDL cholesterol levels are outside the limits. That we know. 

But switching to another doctor is not that easy - not with a complex disease as mine (and I am sure many of you can relate). There are things “set” with the doctor that takes care of both your heart and your lipids. 

To name a few of the things that would need to be restarted with another physician if I were to walk away from this one (I think you’re tired of me by now reading here how dissatisfied I am with him and how many times I thought of changing him out with another doctor): 

• He manages my yearly heart tests (echo and nuclear stress test, mainly but he is also on the vascular team that manages my carotids and abdominal aorta too). I would have to start fresh with another doctor to explain the need for all the tests, the history, etc ... 

• He approves my specialty-pharmacy drugs every year (Praluent and Nexletol) and his office does a flawless job with this. They have this down to a science (and I hope I am not jinxing myself for the future!)

• He manages my INR levels. Well, that is not fully true: I manage my own INR levels, but I cannot get measuring strips for my INR machine anywhere else unless I am enrolled in a “test at home” program that is setup through an INR clinic, like his practice has. 

• As an aside - I have met a lipidologist who would love to get Evkeeza approved for me, but he does not work with any insurance company, so I would have to pay for an office visit several times a year, and for the lab tests on my own and then ask for reimbursement. This is something that the current doctor (given that he is with a major healthcare system) does as a service right now. A minor inconvenience, I know, but I am seriously thinking at least of this switch to the lipidologist, if nothing else. I would still need the current cardiologist for all the heart-related issues. 

Our healthcare system is already complex and unyielding. Add the complexity of FH and heart disease to it and you’ve gotten yourself into quite the spiderweb. But some hair will have to come off when I pull that bandaid, eventually. Like I said: I am not getting any younger. I have less and less the desire to also get any sicker, too (although this might be unavoidable) - especially when there might be other options out there for better treatment. 

Maybe Evkeeza is not for me. Maybe there are some contraindications that I don’t know about from my own research. I am not a doctor, obviously, and I don’t know how to apply a drug to my unique disease profile. This is what I am looking at doctors to know and explain to me. But I need to know something - anything, about whether this is worth trying or not. Something more than “they’ll look into it.” They have been doing this for close to 2 years now (the first year they “never heard of it”). 

At this time, I feel like I have reached a crossroads but not sure what the direction will be from here ... 

Treating Heart Disease, Haggling-style

As readers of this blog probably already know, once you have cholesterol which is only somewhat managed but not fully, you start getting the additional baggage of heart disease and sometimes even strokes. So, as you well know, I manage two diseases - both high cholesterol and heart disease, hence the name of this blog. 

This entry is about how I have been trying to manage my heart failure condition in the past few months to a year now. My heart failure is only one of the several heart-related diagnoses that I have been saddled with. Some others are coronary artery disease (CAD), aortic stenosis, and atherosclerosis. 

I was diagnosed with a high BNP value in 2017 (for more information on that first diagnosis see this post from that year: ​​https://livingwithfh.blogspot.com/2017/05/cholesterol-and-heart-health-update.html). At that time, it was 285 pg/ml. But at that time, they did not call it heart failure yet. That didn’t happen until 2022. 

BNP shows the amount of damage in your heart and helps the cardiologist diagnose the level of your heart failure. My type  of heart failure is “Heart failure with preserved ejection fraction” which is a category all of its own. All other categories are different degrees of “heart failure with reduced ejection fraction”. My ejection fraction is good (unlike the heart failure with reduced ejection fraction), but the heart muscle is stiff which is what causes the high pressure, along with other symptoms, like shortness of breath. Outside of the BNP test required to measure the heart failure (a blood test which is not cheap - around $285 without insurance at my clinic), they can also measure the ejection fraction during your heart echocardiogram test which is something I get once a year. During this test, they can also see whether your heart is enlarged or not (more common with heart failure with reduced ejection fraction). Putting all these data points together, they can diagnose more precisely which type of heart failure (HF) you have. The treatments for any of the types vary slightly, so a correct diagnosis is preferred. 

Things have gotten worse for me since 2017 when they first measured an elevated BNP. It kept climbing all throughout last year, during which time my shortness of breath kept getting worse. For example, I could not go up one flight of stairs without feeling completely out of breath; nor could I walk across the living room with a half-full laundry basket en route to my laundry room without panting like a dog at the end of the 20 feet trek. Not ideal for a 47 year old who is not overweight. 

In November of last year, the BNP was the highest that it’s ever been, since we’ve measured it, at 692 pg/ml. Along with a worsening shortness of breath and higher BNP, my blood pressure has not been totally controlled, more often being around 160/ 50-60’s and more seldom measuring at around 120 / 50. Some days, it spiked to 180’s, too. 

During this time, the cardiologist continued to “play” with various drugs to try to manage my blood pressure, first. The belief is that if we control the pressure better, less damage is done to the heart muscle and the BNP will ultimately improve. 

I call it “playing” with the drugs because that’s exactly how it feels. When he decides to add drugs or change drugs for my blood pressure, the conversation goes something like this:

Doctor: Well, we could add the Spironolactone which is a diuretic and it’s a drug older than you are, or, we could add Farxiga which is a diabetes drug and newer. Which one do you want to try? It’s sixes to me! (this is all an almost exact quote)

Me: Well, what do they do? How are they different? (I am not sure that all patients ask this, but they should!).

Doctor: Well, one of them takes the water out of your system, the other takes the sugar out. Both have good results on improving heart function and ultimately BNP.

Me: Which one has fewer side effects? 

Doctor: They are both generally well tolerated, but the Spironolactone elevates your potassium, so we need to measure that periodically and ensure it stays low. No other side effects to worry about. (I have always struggled with a doctor telling me that a drug “is generally well tolerated”. I understand this is all they have sometimes, but I have found that the tolerance is always in the eyes of the beholder. And they never account for that.)

Me (dubious as I know from experience he leaves many side effects out): 

Well, I have not heard of either one, so let me research them and get back with you. 

And he lets me go home and we’ll talk about it at the next appointment, in three months... Then, I choose one (depending on what I find on the internet and what concerns I might have), and he works on the right dosage and how often to take it. And he puts me on it, we try it out for a while, I report any side effects, because there are always side effects (including ones the pamphlets never mention), and I decide whether the side effects are worth living with or we need to stop. 

The dialogue above happened sometime last year, when my BNP kept climbing up slowly till in November it got to 692 and my shortness of breath kept getting progressively worse. Before then, he tried many other drugs - I have been on Amlodipine since 2020; he also tried Losartan and Ramipril. But the blood pressure never really seemed to budge much. 

And then, he added Spironolactone. The blood pressure finally came down - my pattern was now reversed - more days of 120 / 50 and fewer days of 169 / 60. But the chest pressure was only marginally better, if noticeably better at all. And I started getting more palpitations and more panic-attack-type episodes than ever before ... But I stuck with it, because I wanted to see how the BNP would fare. 

He repeated the BNP in December and in February and both times, it was only slightly lower than when we started (581 and 598, respectively). So, finally, in February, I told him I am not sure I should continue with the Spironolactone. The side effects and the little benefit I was seeing did not justify everything else that was not conducive to a qualitatively good life.  I texted him (a luxury, I know, that I have with this particular cardiologist to be able just to text him!) and he said “Stop taking the Spironolactone.” That was that. Not replace it with something else, double up on the other things you’re taking (Amlodipine and Atenolol). Just stop! We have a follow-up appointment later this month, so I guess he figured he’ll make me guess on some new drugs again then! 

I stopped the Spironolactone but I started taking Amlodipine twice a day instead of once a day, basically doubling the daily dose at the very same time he told me to stop the other drug. The doubling was a judgment call I made, after remembering that he told me years ago that the dose of Amlodipine I was taking was a “child dose” (I am very sensitive to any amount of any drug, so he usually starts me on lower doses). So, I figured, if we double a child’s dose, we might get a better response for the blood pressure and by now I have gotten used to the side effects from Amlodipine. He was fine with that. 

Since February, when I made this change, the chest pressure has gotten so much better, the blood pressure continues to stay low, still with occasional spikes, but more rare, and the BNP dropped to 388 when we measured it in April this year - so, almost half of when it was the highest last year. Still too high (the normal is again, below 190 pg/ml), but I take any improvement. The trouble with doubling the Amlodipine, however, is more edema (swelling in the legs and feet) and more sensitive gums (more bleeding when brushing my teeth). You always have to know your body, notice what happens and try to weigh the bad against the good and try to figure out what is manageable for you. I am sure many of you out there would make totally different choices than me, when presented with the same alternatives as I have been. 

I am not sure what, if anything, he might suggest next. He has been bugging me about the Farxiga drug for several appointments now, but I am not sure about it. We will see ... 

On another note, (almost) no idea why this happened during this time, but my LDL cholesterol has come up since November. I have not changed anything about my diet, and outside of “playing” with the heart drugs, I have not introduced any other drugs. However, I lost my dad in November. My own grieving process and managing my mom’s depression from afar (she is in Romania and I am in the US) through her own grieving during this time has been excruciatingly hard. There are many proven studies that show that cholesterol rises with stress (has to do with a higher level of cortisol, the stress hormone, in your body - you can google this and there are virtually thousands of sources speaking about this). 

The latest change in my cholesterol levels

This is just a guess on my part. I have communicated to my cardiologist on several occasions that I am under a lot of stress lately, but when the cholesterol results came back earlier this month, I still got a note from him saying “don’t know why LDL is up. Will talk.” 

If I have learned anything during this journey, it is that the research I do on my own is just as effective, sometimes even more so, than the advice I get from my doctors. It is unfortunate and wrong, but it’s what it is. And I am not sure what broke what: the fact that the patients are more knowledgeable now than they were before caused the doctors to pay less attention and be less educated? Or the fact that the doctors are so much more super-specialized and not as thoroughly trained as before caused the internet to fill in the gaps because the demand from the patients is definitely there?! 

Like the cardio guy said to me: it’s sixes to me. I get my information from him, from other specialists and from the internet and try to make the best decisions. I figure the average of all those opinions is still better than doing nothing. 

Stay healthy, you all! And never stop fighting for your answers.