Meeting a New Vascular Surgeon

I opened up the year with a new-patient visit with my new vascular surgeon. 

Right before I headed to his office early on this month, I realized that I have gone more than four years without a vascular specialist monitoring my arteries. Considering the amount of disease in both my abdominal but mostly in my carotid artery, this sounds crazy to me! I used to have an amazing vascular surgeon when I lived in Utah. We moved to the Triangle region of North Carolina in 2017 specifically for the well-reputed healthcare we hoped to find here. And so far that has not proven to be the case. Provo, Utah offered a lot more quality care than all the specialists I have seen so far in North Carolina. The constant dismissal of my cardiologist that I should not see a vascular surgeon mostly contributed to this delay. But I persevered. 

It was also a matter of Karma, or chance, or call it whatever it was ... but even when he did refer me to a vascular surgeon, the week before my appointment was supposed to happen, she had to have emergency back surgery and my first appointment with her was canceled. I had to be referred to another vascular surgeon and they are busy people. It took months before I got another appointment. But I digress ... 

Prior to coming to this surgeon, I saw a cardiovascular interventionist cardiologist: they cath, but they don't cut. He was supposed to manage my arterial disease and my cardiologist was supposed to only manage my heart. I have written several times about how the vascular cardiologist downplayed my condition and it got to be so bad that I had to stop seeing him - I was not gaining any new information, I was going nowhere with understanding what kind of plan he had to manage my disease. So, I asked my cardiologist for another referral, this time to a vascular surgeon. 

You will find this a lot with this disease, especially if you are younger. People that are less knowledgeable in treating FH will not look past your appearance. They will not understand the danger that is developing in your arteries right as you speak to them. You think this is an exaggeration, but it is not. Like I said: you must persevere and find the best care for yourself. 

The new vascular surgeon ordered a couple of tests before he saw me: a CT scan of my abdomen (with contrast) and an ABI (Ankle–Brachial Pressure Index) of my leg - this measures your blood pressure in several spots on both of your legs before and after exercise. If the pressure is higher after exercise, this means that you have claudication (narrowing of arteries, or poor blood flow in your legs), or your abdominal aorta is not supplying your legs with enough blood. 

I have done this test several times before and it usually shows mild to moderate claudication, depending on who does the test. Not sure why he could not use the results from the same test my cardiologist did earlier this year, but he needed his own results. This time, they also sent me to what it ended up being the wrong lab: the exercise they have you do before checking your blood pressures the second time is to walk on a treadmill at a certain speed and with a certain incline. This lab had no treadmill. I was surprised about this but who am I to argue? They, instead, had me do calf raises (standing on your toes) for 3 minutes and they asked me if my legs were cramping. They were but I was pretty sure it was not from exercising too much but from muscular cramps of the legs not doing calf raises every day ... But they didn't care about that - they measured the pressures after this "exercise" and they were almost identical with the ones at rest. The test came back for the first time as "no claudication." 

The visit with the surgeon followed. I started by first asking him if he knows anything about FH or about HoFH specifically. Initially he said "no" and when I looked shocked he apologized and said he could not hear clearly what I said because of my mask and that he is very familiar with FH.

Just for safe measure, I explained to him my journey in a nutshell, from when I was diagnosed at age 8, through all the treatments, the open-heart surgery, the heart attack, etc. I told him how I have been disappointed in the care I have received with the current medical system for my arterial health specifically and I was hoping he will fix that. 

I explained to him my concerns with what I know the tests show - a narrowing abdominal aorta and several of its branches, narrowings in the carotids, etc. I also added that I am not looking for surgery at this time (he is a surgeon, I was thinking, the only way they know to fix things is to cut), unless it was absolutely necessary. I told him I am young but I have an old people's disease so it's tricky to do surgery unless it's really thought-out because things that just work for older people (like stenting) might not work for me. If I was wrong, I asked him to explain why. I told him that several doctors dismissed me as too young or not having enough disease to really be aggressive about watching the disease's progress and that cannot happen here. I need to be taken seriously. 

Some of the points he made and some of the learnings I gathered from our appointment: 

• Before we got to talking about my tests and to assess my situation, he started by saying that I should never let any doctor make me feel bad about standing up for myself. He said that is the "absolutely right thing to do as a patient: stand up for yourself and demand answers" so I can understand the situation. I was glad to hear that. 
• Then, he wanted to make another thing very clear: just because I had an incredibly involved open-heart surgery which showed more then severe disease in my coronary arteries and in my aorta, to the point that the aorta had to be replaced and the arteries had to be repaired and bypassed it does not necessarily mean that is the case of the aorta and all its branches "in all the other vascular beds in the body. That for whatever reason, and we don't know why, different beds see the disease at different speeds." This was news to me. I have generally been advised to always monitor all arteries, not just the heart. 
• He then said the ABI did not show signs of claudication which is good - this means the abdominal aorta sends enough blood to the legs which have good flow themselves. I challenged his statement, however: I asked him if "3 minutes of calf raises can be considered proper 'exercise' for a 46 year old" to judge the true condition of the leg arteries. He said it absolutely does not. He was not aware they did the test without a treadmill and he said the exercise must be in line with the patient and their condition and ability to exercise to show accurate results. So, he is sending me back to get the ABI done again in 6 months. (Never mind that I already paid for a test that is no good - no apology or do-over there). 
• When we got to the CT of my abdominal aorta, he did not go by the findings on the results, he brought up his own plan of action. He first said I did not have enough disease in the abdominal aorta right now to warrant any intervention. Then, he said my abdominal aorta is very small, just anatomically - it is slightly larger (by only 2mm) than the iliac branches which stem from it. Normally, the aorta should be twice the diameter of the iliac arteries. Add some calcification on top of this, you get a very narrow aorta. But the problem is not that it's stenotic, it's that it is too small to begin with. This is one of the reasons that does not make me a candidate for inserting a stent, if needed. He said the only thing he could do should I need surgery for an occluded aorta would be to do something similar to exploratory surgery (where they open up your abdomen) and replace the diseased portion of the aorta. This cannot be done laparoscopically or through any other of non-invasive kind of surgery. However, we are not at that bridge yet. 
• He also said that one of my celiac arteries (that distribute blood to different organs in the abdomen) is compressed by my diaphragm muscle (again, my anatomy, not any kind of arterial disease) which is preventing it to be fully open, but this would have to be addressed by a general surgeon and not himself. He also said there is nothing he recommends at this time for the celiac arteries, as well. 
• In conclusion the plan is:
• Do nothing now - the disease is not severe enough to suggest any kind of intervention.
• Repeat the ABI test in 6 months to get better "exercise" results. As long as there is good blood flow in the legs, he does not want to image the abdomen. He sounded pretty drastic to me when he said "even if the abdominal aorta were to become completely occluded, if we have good flow in the legs, we don't worry about it." I am still kind of noodling with this thought and will probably press for a better understanding of what's going on in the abdomen.
• Also, as part of his plan, he wants to do a carotid scan in 6 months to see the progress, if any, of that "vascular bed" which he intends to also monitor closely. We spoke about pre-stroke symptoms and he urged me to call him the minute I might think I experience them. (The cardiologist said he would monitor the carotids every two years, but the vascular surgeon wants this done every year).  
• He concluded by saying that everything I do for heart health is 100% beneficial for vascular health: keeping the cholesterol as low as I can, taking all the recommended medications for cholesterol and blood pressure, keeping the blood pressure as low as I can, eating a healthy, balanced diet, not smoking, not being overweight, and moving. "Moving, moving, moving. Moving is the best medicine for your arteries." - he said. 

He was mostly concerned with the legs - he kept saying that the one, most important test he will have to do every year with be the ABI test and that as long as the flow stays healthy in the legs, he trusts that the abdominal aorta is fine. 

I asked to be imaged every year for the abdomen and he insisted that is not necessary. I do have questions about the other branches, but I will just have to ask about them and ensure we know more as time passes, or listen to my body for new symptoms, which, of course, has always been the case. 

I was surprised that he did not do a physical exam this first time - he did not listen to my abdomen, or other arteries. He just discussed symptoms, the tests he's done so far and what the plan is for the future. I have to say, a physical exam among these kind of specialists seems to be more and more rare nowadays. I am not sure how you truly know a patient without listening to and feeling their body, but maybe I am old school. 

Although, he did seem thorough, there were things in the CT findings that he did not address. I realized how many things only after I came home. I find that this happens a lot: I go in, and we go over whatever the doctor wants to go over, and although I typically have a list of questions, I miss some of the points from the tests. In the future, I am planning to print every test they send me and highlight the portions on the test that I want more information on. I will bring this printed information with me to all the future appointments. 

Overall, I was somewhat pleased with the new doctor, although I did not feel like he did cross all the Ts nor dotted all the Is. But ... I have learned more from him than any other vascular specialist since I have moved here, and no one is perfect. After all the setbacks with the medical care here, since we moved back East, my bar was relatively low and, with all the missing information, he actually came above that. He did not dismiss me or my age and he provided what seemed to me scientific, non-biased information about what his plan will be. Never in our dialogue did he say "you're too young to worry about such things" which would have made me leave and never return like I did with the vascular cardiologist before him. 

It's a process. The first stone was laid down with this appointment. I am planning to give him (and his assistant) some time to prove me wrong. Or right. 

Staying Safe in Times of Covid when Having the Additional Risks of FH and Heart Disease

I see a lot of people that ask on social media what are the proper measures to take as an FH patient during times of Covid - how cautious we should be and why, whether we should get vaccinated, or allow our kids to be vaccinated and so on. Of course, I am not advising anyone about what they should do with their lives, but I thought it would be helpful to share some of the measures I have taken to stay safe so far during this pandemic. 

We are getting ready to enter the third (as in 3rd!) year of the Covid19 pandemic. At the beginning of this (March 2020), I started keeping a journal about the pandemic, where I’ve entered personal notes as well as copies of articles about important milestones during the pandemic, insights about the numbers at various points in time, in various countries that affect me, my family, my friends, my coworkers. That journal is now 275 pages and getting longer almost daily. That is, by far, the longest unified writing record that I have ever produced. And the story of the Covid19 pandemic is far from over. In those pages, I document in painful detail, at times, how we have learned so much about something that was virtually completely  unknown when everything started. And in the process how we have learned about ourselves, too, what kind of people we are and how we deal with pressure, hopelessness, sickness, and even death. 

For the past two years, I have started my days with a quick scan of the news to find out what is new in Covid19 research, cases, numbers, symptoms, etc ... I scan the headlines sometimes obsessively to see what is new. Learning the news first thing in the morning is how I have started every day since March 12, 2020 when the world closed up for the first time. 

I have paid close attention to this pandemic for many reasons, some of them more obvious than others, perhaps, but most of them are related to my being an FH and heart patient, and because of this, feeling a lot more vulnerable than others to this disease. Here are some examples of why I have been so keen on learning everything there is to know (so far) about Covid, for my own health first: 

• I have FH and research shows that Covid19 is more aggressive for and causes an increased number of acute myocardial infarctions (AMIs) in people with this disease - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289723/.
• Because of FH, I already have heart and cardiovascular disease and we know now that Covid19 causes disease in the heart and cardiovascular system that could lead up to severe complications and even death - https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.121.317997. Adding more disease (or risks) on top of what FH already caused in my body sounds like a match made in hell to me. 
• I come from a family with lots of long-term lung disease and lung cancer patients: my mother’s aunt, my mom’s father and my mom all have had lung cancer. Her father also had emphysema and my mom also has COPD, lung fibrosis and asthma. We know now that Covid19 can cause long-lasting disease in the lungs and even death from lung disease complications - https://www.hopkinsmedicine.org/health/conditions-and-diseases/coronavirus/what-coronavirus-does-to-the-lungs 
• I have a mechanical aortic valve which puts me at a higher risk for developing blood clots. For this, I take blood thinners (Coumadin) that prevent my blood from clotting, but keeping the right balance of anti-clotting agents in my blood is a tricky business. If my INR (the number that measures the level of anticoagulant in your blood) dips too low, clotting can happen easily. We know now that some people with Covid19 develop blood clots that can lead to organ damage, heart attacks, stroke, and even death - https://www.nhlbi.nih.gov/coronavirus/blood. Again, this is an added risk to an already existing one for me. 
• Studies have already shown that people with heart disease, high blood pressure, and high cholesterol are at an increased risk for severe forms of Covid19. I have all these three diseases. 

For two years, I have tried to stay as informed as possible about how the disease progresses, how the vaccines work, which vaccine is more indicated than others for my specific case. What are the risks of unmasking, what are the risks for contracting Covid19 even if vaccinated, what are the risks for contracting the disease again, even if vaccinated or previously infected - are all questions I have had and have tried to learn the answers to online - the amount of resources is staggering but you need to qualify your sources and learn the reliable ones. I use the CDC, American Heart Association, The Family Heart Foundation, WebMD, Johns Hopkins Hospital, The Cleveland Clinic, to name a few. Again, I don’t endorse any source over another - these are just some of the sources I have found helpful that publish up-to-the-minute new information. 

The CDC reported early last year that there was a 1 in 100 chance of breakthrough infections with Covid19 (meaning 1 in 100 vaccinated people will still get Covid19). This number was back when the Delta variant was the more dominant one.  More recently, some studies show that at least 5 in 100 vaccinated (and boosted) people can still contract the disease. The increase is due to the Omicron variant which is far more contagious than previous ones. Considering that I have Homozygous FH which has an occurrence of 1 in 250,000 people ... the Covid19 numbers scare me, to say the least, because they sound like Covid is so much less rare than the disease that I already have. My odds have always been in the “rare” range for anything. Even when I start taking a new drug, I always develop the side effects listed under “less common” or “rare”. 

I don’t run my life by the numbers, the percentages, or the estimations that research spews out every day, but I use them as a guiding factor to adjust my behavior. So far, my husband and I have been so lucky to keep Covid at bay with the measures we have taken for our small household. 

I will have to say this has been the first time in my life when I am actually happy that we don’t live closer to family because this forces us to not congregate with people if we don’t need to. It’s easier to say “no” to friends than to family. We have very little need to see other people and we can see the few friends we do have around us separately from each other, in very small groups. And we are grateful for a handful of friends who understand our need for separation. 

Some measures my husband and I have implemented are:

• For the first year (2020, when we didn’t have any vaccines), we did not eat at a restaurant, not even outside. We only picked up food to go and ate it at home or in parks. 
• Also for the first year, we did not socialize with anyone indoors. We always socialized outside, in open air, and we did not share food, utensils, or drinks. We sat distanced from other couples and we never met with more than 2 other people (one couple) at a time. 
• We did not travel overnight in 2020. We took day trips to cities close-by, packed food and lawn chairs to spend time in parks, but never spent the night.
• Last year (2021) we both got vaccinated as soon as we were eligible (March 2021) and we got boosted as soon as we were eligible as well (November 2021). 
• In 2021, we started going to restaurants and eating outdoors on patios only, because we felt a bit more protected, having been vaccinated. But again, it was mostly just the two of us, or us and another couple. Never more than 4 people (including us) at the table. 
• We started traveling in 2021 again, but only by car. We have not boarded a plane since 2019. We spent some nights away from home in AirBnB’s or hotels that have a reputation for enhanced and deep cleaning (Marriott and Hilton). 
• In 2021 we drove up to Michigan and Canada to see family, finally. In Canada, we felt completely safe. We took 3 Covid19 tests before we were declared “OK” to stay in the country and all of them were negative (of course). I have to say, as inconvenient as they are, tests add an extra layer of peace of mind. Canada also requires proof of vaccination everywhere you go (museums, restaurants, hotels) which also added another safety blanket. They also require masks everywhere and they will escort you out of the establishment if you’re not complying. Things are very different in the US.
• We did dine in a couple of indoor restaurants (about 6 over 10 days) in both Michigan and Canada, but we went during less busy hours where the crowds were not very large, or we requested tables at the end of a restaurant, to stay distanced from everyone else. The staff was always accommodating when we made these requests. 
• To this day, we never go anywhere indoors without a mask. To me, this is just common sense. Even when the CDC told us that we could ditch the masks if we’re vaccinated, we still wore them because, again, to me, that was common sense: if there is even an iota of a chance to get a breakthrough infection after being fully vaccinated, why in the world would you want to risk it, especially when you know you already have so many other factors working against you should you contract this crazy disease?! 

Masks, vaccines, incredibly good hand hygiene, distancing, avoiding crowds and indoor gatherings - these are all the tools we have used so far to try to stay healthy. What started as a huge inconvenience and massive paranoia has become our lifestyle nowadays. 

I am not saying all this has been easy. It’s surely taken some time to make it into a routine. But at the end of every day, health is worth every effort, in my opinion. What do we have? What can we achieve without health? We hope that some of these (especially the distancing from our families and friends) are temporary, but who knows? What if they are not? Since the time this pandemic has started I keep telling myself: we can only make decisions with the information we have today. And we move along ... And that’s what we have been doing: a lot less planning for the (far) future, a lot more adjusting to what we know today. 

But I have to admit: it is getting harder and harder to stay guarded. Not because we’re getting tired of it all, not even because the variants seem to be getting more infections, but because people around us no longer play it safe. Everyone says they are tired of all the rules, they are tired of the iffiness and of the lack of certainty of what tomorrow’s new variant might bring, or what the vaccines might bring or fail to protect. More and more people don’t mask up anymore. North Carolina, where we live, seems to be a slightly safer state (at least in some parts) than most where more people wear masks rather than not. But Georgia, Michigan, Pennsylvania, West Virginia, Virginia, from what we have seen so far, are far from that. In these other states, the proportion of masked people is extremely low compared to those who wear masks. The number of people wearing the masks correctly is even lower. In the US as a country, the vaccination rates are low, too. Scaringly low ... 

And I don’t even begin to comprehend how people can even turn any other kind of ear but a deaf one to the misinformation about Covid being just a “regular” disease, “not much worse than the flu”. But maybe it’s just me - like I said, I have started every day of my life with the news, with the researched numbers, with how scary everything looks. Everywhere. In all countries. Across the world ... I have no other belief than this is a real and scary disease that is as easy to get as it is to breathe. 

I often tell myself: I never felt like I had to put my life on hold for FH. I always knew what the risks were and tried to stay healthy, listen to my cardiologist, take the drugs, and still do everything I wanted to do. Why am I putting so much on hold for Covid? Since I am doing everything I need to do (I think), why am I not moving on with flying across the world to see family, or going on a tour of the United Kingdom (like it was our plan in 2020), or the likes. The difference now is that unlike FH where you have just one person to control, I feel like with Covid, you have to control your actions and everyone else’s. I cannot control people spreading it around me because they don’t mask, they don’t wash hands, they don’t vaccinate, and they don’t keep their distance, or better yet they don’t stay home. How can I control that?! The one thing I can do is to stay away from them. And hence the (semi-)hermit-like life I continue to lead. 

I am not sure how long we’ll keep these measures in place. My personal (ideal) goal is to not change much until Covid19 drops to endemic levels, but I know that this might not be possible. My parents are aging fast and they live across the world. I am hoping that this summer I will go to visit them for what it could be my last time to see them alive. I have not seen them in 3 years and they look like they have aged by at least 15! I might take a huge risk, greater than I ever planned for, and jump on a plane (actually more like 3 planes one way) to go visit them. But I just never know what tomorrow might bring. 

We still live our lives from day to day, waiting for the next batch of news, the next findings in research, hoping for better, more efficient vaccines, better drugs to treat Covid, and so forth. I don’t click on things like “Covid numbers are soaring due to the Omicron variant” or “Covid numbers are surging because of holiday travel” because really, they offer nothing new. The times we live now are, I am afraid, not unprecedented anymore, to some extent. After two years, we have seen how it goes: numbers go up in the cold months, they go down in the warm months, variants happen and they can be more aggressive (delta) or less (omicron), but both can mess you up (long Covid) or kill you. And the measures for how to stay healthy, minus one or two iffy guidelines, have largely been the same. 

I try to stay calm and just read the facts and act accordingly, only with an extra amount of caution because FH and my heart disease makes me that much more vulnerable. Mostly - I try to keep people at arm’s length and act according to common sense and what science shows now. 

Most importantly: I try not to panic and to have much hope. Hope in science and research, hope in the power of medicine, and hope that one day people will become kinder and more careful towards others as well as kinder to their own selves. After all, how can one survive without hope?! 

Stay safe out there, folks! Be kind to yourselves and others. 

My Amazing Surgeon

I still remember the first time I heard the name of who was going to be my cardiac surgeon. My cardiologist recommended that my severely stenotic aortic valve could no longer be ignored and it had to be replaced: I needed open-heart surgery to fix this. I asked him if he recommended a certain surgeon, maybe someone he was routinely working with. His answer came out almost in one breath: "You will probably go to Dr. John Mitchell. Outside of being an amazing surgeon, he is also an incredible human being." 

I didn't know at the time that my cardiologist was underselling Dr. Mitchell. By a long shot. 

Now, if you read this blog frequently you know that I usually complain about doctors and seldom, if ever, praise them. However, this one is different. This is the man that not only saved my life, but gave me a new one! 

I came to know Dr. Mitchell during my surgery (in 2016) and in the long recovery afterwards. Even after leaving Utah, he insisted that I should come back for a follow-up consult every year. So, every time I've gone to Utah for work, I made sure I made an appointment just to ensure he has a look at my latest tests and he gives me his nod about what my next steps should be. 

He did a procedure on me that to this day, from everything I have read (and I have read a lot!), was incredibly complicated and incredibly brave (https://livingwithfh.blogspot.com/2016/02/open-heart-surgery-day-1-to-8.html) . There were so many more things wrong with my heart that went way beyond just a stenotic valve: there were four major heart arteries almost all 100% blocked, a PVC-like aorta ('porcelainized'), a damaged aortic arch with an aneurism to repair - all because of what Homozygous FH did for many years of non-treatment and LDL levels in the 400-500 mg/dl range. He fixed it all in one operation, in an almost 12-hour surgery and he ensured me that what he did will last me "a long, long, very long time." 

Just like my cardiologist said: I have found out for myself: he has been an amazing human being, right along with being the most amazing doctor I have ever seen. And trust me, with FH - I have seen hundreds of doctors in my life. Not one other medical professional could ever come close to comparing. 

And just when I thought he could not be more amazing, I came across this story from May of this year: a former Army surgeon for 20 years, at the age of 61 now, he has rejoined the Army Reserves as a colonel, to serve the country one more time as a surgeon. He never stops to leave me speechless. 

I am so humbled that I had him as my surgeon. I am not sure how I got so lucky! Every day, I pray that he is blessed with health and hope and a long life, just like he gives his patients ... 

FH is a journey, full of twists and turns and so much unexpected that it all wears you down, at times.  Doctors are mostly unprepared or unaware of this disease. To find a doctor that is knowledgeable, on top of having a plan and being compassionate to boot makes you really feel like you hit the jackpot. It breathes life and hope back into your tired wings. 

I am forever indebted and forever honored to have had him as my surgeon. I owe the life that I have had for the past 5 years to him - and, if he is to be believed, the life of all the years to come, too. 

Read his amazing story here: https://www.deseret.com/utah/2021/3/21/22332684/doctor-reenlists-with-the-u-s-army-to-give-back-what-hes-learned 

A Mixed Bag: Some Good Things, Some Bad, and a Whole Bunch of Guessing, as Usual

Today was an odd appointment with my cardiologist, to say the least. It was my 3-month appointment (this is routine for me), where we were supposed to discuss the recent tests that he had ordered (a heart echo, a carotid ultrasound, recent blood work, and the results of my neurological tests) and, as always, assess if there are any changes needed in medication.

Right off the bat, he admitted that he didn’t review my tests before he walked in the room. He said he did see them when they were done (in September), but he had not reviewed them this morning before he walked in the room (intern in tow) to see me. So, he needed a minute. (My appointment was at 8:40 AM and he was already an hour late, so I guess: busy morning!)

My cholesterol went up slightly, as you can see below, but he said he will consider it a “lab error”. Well, which one was the error: the last one that showed it the lowest I have ever had it? Or this time, which is more in line with everything else we’ve done for the past year? No answer.

My AST (a liver enzyme) is elevated but only slightly (43 U/L and it’s normal between 15-41 U/L). But I have had it as low as 26, so … there is some reason for concern there. He said to repeat it in 3 months before our next appointment. We repeat the same tests before every appointment: a lipid panel, a liver and renal panel, a uric acid (because of the Nexletol/ bempedoic acid which elevates the uric acid and because in my 20’s I used to have gout attacks frequently).  The AST is part of the liver panel. He asked me if I want to do an extra measurement at 6 weeks but he said “he didn’t care; it was up to me”. OK, then … let’s just do them all at the same time which is in 3 months. (I love when he says “he doesn’t care” or “to him it’s six of this or half a dozen of the other”. Sounds so reassuring!)

My heart echo write-up mentioned for the first time “diastolic disfunction”. I asked him about this and he explained that what this means is when the heart fills up with blood, it increases in volume but it should not increase in pressure. In my case, there is some pressure that is measurable, but that it is “mild”. He said this is “normal” and “almost expected” in my case, having had a heart attack, open-heart surgery, and coronary vascular disease for many years. He said he is not extra concerned about it, as long as my aortic valve is clear (which it is) and my ejection fraction is good, which at 55% it is.

The narrowing of all my carotid arteries is increased compared to the measurements of two years ago, but the percentage is all the same – between 50-69%. This seems like a huge range to me, but that’s where they place my numbers.

For those more curious, here are my measurements for both the right (first) and the left (second) carotid arteries:

MEASUREMENTS – Right/ Left
------------------ -------------- --------------

Central Carotid Artery
CCA Proximal 249/ 19 cm/sec - 216/ 23 cm/sec
CCA Mid 168/ 21 cm/sec - 230/ 23 cm/sec
CCA Distal 141/ 19 cm/sec - 199/ 24 cm/sec

Internal Carotid Artery
ICA Proximal 136/ 24 cm/sec - 191/ 22 cm/sec
ICA Mid 189/ 36 cm/sec - 134/ 21 cm/sec
ICA Distal 160/ 30 cm/sec - 157/ 22 cm/sec

CCA/ICA Ratios 1.340 - 0.960

External Carotid Artery
ECA 550 - 260
Vertebral 93/ 16 cm/sec - 115/ 15 cm/sec
Subclavian 305 - 327

He said that the worst narrowing is in my External Carotid which is of least concern, because it’s the one that vascularizes the face which gets blood supplies from a “million other places” (his words), so there is no concern for no blood supply there.

I have an appointment with a vascular surgeon and he asked me to follow up with him for a second opinion on the carotid findings.

If it were not for me to mention the neurological test that he ordered to diagnose peripheral neuropathy, he would not have discussed it. I told him that the test showed that I did not have peripheral neuropathy. He was glad about that. He had suspected there was something neurologically wrong because my dizzy spells. Well, not sure what worked, but my dizzy spells are very mild now and very infrequent, and my muscle spasms and cramps are also much better, too. The dizziness definitely does not last for a whole day anymore. I started taking CoQ10 (my decision) which I guess must have made my muscle cramps less frequent, but I don’t think that it had anything to do with fixing the dizzy spells. In addition, my primary doctor diagnosed me with possibly anemia (low red cell count) and a B12 deficiency, so I started taking B12 vitamin supplements at about the same time as the CoQ10 – about 2-3 months ago. He agreed that this deficiency and the anemia could have caused the dizziness for sure. So, we’ll just continue with this treatment and the regular doctor is planning to check the B12 levels again at our 6 month follow-up.

We also talked about the heart symptoms: how’s the blood pressure, how’s the chest pain, how is the shortness of breath? How do I get along with the newest drug he put me on to treat all these (Amlodipine). I told him that the chest pain and shortness of breath are stationary, but I have more stamina when I walk (I can go further and on steeper inclines through the shortness of breath and the angina because I feel like my heart is getting enough blood supply). My neck still cramps, but after a longer walk. The blood pressure is medium-high (in the yellow-orange range on the machine) a lot more often than mostly high (red range), like it was before the Amlodipine. My gums are still very sensitive because of the Amlodipine but I am working with the dentist to use softer brushes, better paste to not irritate them too much.

After the physical consult, he said he thinks “I have more fluid than what he would like for me to have” and to back off the salt. This is the first time in my “heart-patient career” that anyone has said anything about salt, because typically my fluid is under control. He said my legs look fine but that my chest shows signs of too much fluid. He gave no reason as to why all of a sudden my fluid retention is higher, and no recommendation on what to stop or start doing (other than salt intake) to help with this.

As for the FH treatment, he said he would like to try the “twice a year siRNA PCSK9 inhibitor which might come out in the US sometimes next year” – his guess -  (he was referring to Inclisiran - https://www.novartis.com/news/media-releases/novartis-receives-eu-approval-leqvio-inclisiran-first-class-sirna-lower-cholesterol-two-doses-year) to replace the twice-weekly Praluent injections that I take now. I have asked him again (http://livingwithfh.blogspot.com/2021/07/who-knows-more-about-fh-you-or-your.html) about adding Evkeeza to the current treatment and he said “that would be another option as well”, but he made no recommendations about it. About this, I am puzzled: my LDL is nowhere near the “target” number of 70 mg/dl or lower, but he did not recommend adding anything else to my current drug regimen.

So, a mix of findings and if I were to summarize, I would say:

-          Heart function is stationary (no idea what the coronary arteries are doing because we would need a cath angiogram for that)

-          Arteries are showing advancing disease

-          Cholesterol (LDL) is still elevated, not at ideal levels for my disease and my history

-          Liver function a bit modified

-          Quality of life/ symptoms (dizziness, muscle cramps, chest pain and shortness of breath) somewhat improved.

I walk gently towards The Holidays with kind of a mixed bag and lots of unanswered questions. But … it’s better than six years ago when I was walking in with “you must have open-heart surgery in one to three months at the longest.” So, I’ll take it.

The Faces of My FH

 FH has many faces and many stories. I have homozygous FH (HoFH) which means that I inherited it from both my parents. As a matter of fact, both genes that came from them are the same exact gene, although my parents are not related, in any way, by blood.

My grandparents all came from huge families (think 10+ children). My parents have so many cousins they have not met all of them. This also means I have a lot of people on both sides of my family who have FH. And every one of them has a different story. A different story of their diagnosis, of their treatment, or lack thereof, of what the disease ultimately leads to. There are no two stories alike, and there are no two people that chose the same path in managing this disease (or not).

I see a lot of people with FH who are asking good questions about what to do when they are diagnosed; people who display all sorts of emotions, from sheer panic and depression to a nonchalance that I envy, in some ways, although I know that is not the proper course for a healthy and good-quality life when you have FH.

FH has been in my family’s life for generations – no one is shocked when they are diagnosed anymore. We’re all pretty much aware of what it is and what it can do to us: many of our aunts and uncles have suffered heart attacks, strokes, angioplasties, complications from diabetes and fat liver disease. Although we know all these things all too well, not all of us choose to receive treatment. More in the notes I drew below about my immediate family and their individual, unique stories.

My grandfather

Current age: deceased at age 65

Diagnosis age: as a young adult, after several of his older relatives and brothers and sisters were formally diagnosed with FH. At that time, they just spoke of “familial hypercholesterolemia” and did not dissociate between the HeFH and HoFH types. We believe he had heterozygous FH (HeFH).

Cholesterol levels: no one remembers for sure, but my parents think the total cholesterol stayed between 300-400 mg/dl.

Treatment: reduced fat diet; no drug treatment was available for cholesterol in Romania before 1990 when he died.

Complications: first stroke at 48, major stroke at 50 which left him paralyzed in one half of his body. He died at 65 after a massive stroke after having lived bed-ridden since he was 50 with the effects of the stroke and complications from diabetes. He also had coronary artery disease and high blood pressure.

My aunt

Current age: 71

Diagnosis age: as a young adult. At that time, they just spoke of “familial hypercholesterolemia” and did not dissociate between the HeFH and HoFH types. We believe she has HeFH.

Cholesterol levels: currently, the total cholesterol is between 200-300 mg/dl.

Treatment: no special diet, no treatment, by choice.

Complications: angioplasty (stent placement) in her thigh and upper-leg arteries in her 50’s; massive small-brain stroke at 67; high blood pressure, a-fibrillation, tachycardia.

My father

Current age: 69

Diagnosis age: in childhood, due to the fact that his father already knew about his diagnosis, my father was a sickly kid, and his mother (my grandmother) was a registered nurse who tested him for everything. At that time, they just spoke of “familial hypercholesterolemia” and did not dissociate between the HeFH and HoFH types. We believe he has HeFH.

Cholesterol levels: currently, his total cholesterol is 326 mg/dl.

Treatment: no special diet, no treatment, by choice.

Complications: several mini-strokes starting in his 40’s. High blood pressure in his 40’s. Diagnosed with coronary artery disease, peripheral atherosclerosis, peripheral neuropathy in his 50’s. His condition is further complicated by diabetes.

My mother

Current age: 68

Diagnosis age: 63. My mom’s cholesterol levels were in the upper 200’s all the way into her 50’s. She maintained that her cholesterol is not genetic, like my dad’s and it’s caused simply by bad eating habits. When she was 63, I had a genetic test that confirmed that I had Homozygous FH (HoFH). This was the clear indication that she, too, must also have FH. She suspects she inherited it from her father who died when she was 7. She had no further relationships with his surviving family, so the knowledge on her side of the family is very limited.

Cholesterol levels: currently, her total cholesterol is 313 mg/dl.

Treatment: no special diet, no treatment, by choice.

Complications: aortic valve stenosis, coronary artery disease, stroke at the age of 67. The cause for the stroke was unclear as she was also undergoing chemo treatment for lung cancer at the time. The doctor could not determine the cause of the stroke for sure – whether it was vascular or a complication of the chemo. She suspected it could be either one.  

Myself

Current age: 46

Diagnosis age: 8. My pediatrician felt an enlarged liver when I complained of pain in my upper abdomen. She sent me to get a complete liver and lipid profile, also knowing my family’s history of FH at the time. My mother found out the cholesterol level, as a hospital biochemist. At that time, they just spoke of “familial hypercholesterolemia” and did not dissociate between the HeFH and HoFH types.

At age 40, following a genetic test, I was diagnosed with HoFH.

Cholesterol levels: currently, my LDL is 107 mg/dl (the lowest it’s ever been). Before I started drug therapy at the age of 23, my LDL was 475 mg/dl. My total cholesterol was 526 mg/dl.

Treatment: no fat, vegan + fish diet, Lipitor, Zetia, Praluent, Nexletol.

Complications: diagnosed with tachycardia and arrythmia in my early 20’s; coronary and carotid artery disease at age 30; aortic valve stenosis at age 36. Open-heart surgery at age 40 to replace the aortic valve, ascending aorta, repair the aortic arch and repair and bypass four main coronary arteries.  

My sister

Current age: 43

Diagnosis age: 38. Although she knew her cholesterol was elevated, my sister did not get officially diagnosed and treated until this age. This was after my open-heart surgery which rang a bell of alarm for everyone in the family, I think.

Cholesterol levels: currently, her LDL is 108 mg/dl (total cholesterol is 201 mg/dl).

Treatment: low fat, white meat and fish diet, intense jogging (she is the runner in our family as she has been spared heart disease so far), Lipitor.  

Complications: no complications so far.   

My nephew

Current age: 10

Diagnosis age: 7.  

Cholesterol levels: last test showed an LDL of 170 mg/dl.

Treatment: all-inclusive diet, with less fried foods and lower fat, white meat.   

Complications: no complications so far.   

Whatever your story may be, what I believe firmly is this: it all starts with awareness: knowledge is power. You may choose not to do anything at all, but at least you know about the train that’ll be coming rather than one day be caught completely by surprise, way too late, when there might not be anything left to do or know anymore.

To honor the FH Awareness Day, these are the faces and stories of my FH family. What are yours? Do you know?!

Happy health, you all!

 

 

 

Good Numbers and a Slight Change in Drugs

I ended up getting double-checked for cholesterol this summer because in addition to my routine check from the cardiologist I also met with a lipidologist. I have been watching my cholesterol since I was 8 years old and let me tell you: I am yet to see a doctor who trusts someone else’s blood tests. They might rely on a CT scan result, or an MRI, but when it comes to blood – they will poke you again! However, in all fairness, the lipidologist was keener on checking the Apolipoprotein B and the Lipoprotein (a) than the whole lipid panel.

Here are the results:

June 2021 - cholesterol results

The bottom line is that the LDL number is the at the lowest level it’s ever been at 107 mg/dl. I wish I could say why, but not totally sure. My cardiologist thinks it’s the fact that we added Nexletol that made just a little bit more of a difference (in addition to Lipitor, Zetia and Praluent). But we added it in June of last year and it’s been higher then this in the meantime, although lower than before I was on it.

I did make two changes in my diet this year, too, which could have helped with the numbers as well: I eat a lot more nuts and seeds and I added more grains to my diet for about a month before those tests were taken. I also added more dark chocolate to my diet, which is a good antioxidant, as well (I don’t particularly like chocolate in general, but I have found that when it’s coupled with nuts, dark chocolate is actually bearable). Another bummer for me is that I cannot seem to get the HDL number up at all (despite the changes in the diet). It is actually going down even more. I am told that cholesterol medications bring all the cholesterol fractions down, and since I am on so many of them … there you have it.

I do complain about muscle tenderness (not so much as soreness because it hurts really bad only when I squeeze my muscles), and sometimes joint pain, both of which I have had for years now, but because I function just fine, I can stand up with no help nor pain, and am as independent as a healthy person would be at 46, we have not touched the drugs. We both want to see as much benefit as possible in the cholesterol numbers for as long as I can possibly tolerate the drugs. I know other individuals who make different choices here, but that is my choice. At least for now. And that’s just the thing: everyone should make the choice that is right for them. I know this sounds like a truism, but it bears repeating.

I was tentatively diagnosed with peripheral neuropathy this summer (EMG test to follow in a week or so for confirmation) which could be caused by muscle damage from statins. As a result, I added 200 mg of CoQ10 daily to my drugs to see if this will make a difference in the tenderness. But it might be that whatever damage the muscles have had so far might be irreversible, too – that, I don’t know for sure and no one seems to know. For now, I opt to be on the drugs and hoping for the best. The liver and kidney tests have almost always been normal.

The joint pain could be from my chronic inflammation (I try to keep this to a minimum through my diet), or it could be from Nexletol (which raises uric acid and causes gout eventually). As a result, we added the test to measure the level of uric acid to our quarterly “routine” tests. So, now, every quarter, I get a lipid panel, a liver panel, and  a uric acid. About once a year, the cardiologist or the PCP doctor also runs a complete metabolic panel to check for other issues, like anemia (which I have), or kidney issues. My uric acid has been creeping up on Nexletol, but it’s still within the normal range and I have not had any sign of a gout attack. We did not change the amount of Nexletol and I am still taking a full dose (140mg/day).

 

 

 

Who Knows More About FH? You? Or Your Doctor?

How knowledgeable is your specialist, truly, about your FH? Whether it’s a lipidologist, endocrinologist, cardiologist – how familiar are they with the disease, the treatment plans, as well as what’s new in the research of new treatments, if they are in charge of treating your FH?! That is one important question you should always ask about your medical staff, but even more important about FH, since for so many centuries it’s been an underdiagnosed and undiagnosed disease.

We usually want the best doctors, the ones that can get our specific cases, and not treat us like textbook examples. We all want doctors that are not only familiar with our specific conditions but who are also knowledgeable about the different avenues for treatment. We want them to customize those avenues for us.

With a disease like FH, we still get, for the most part, a lot of medical specialists who are underprepared and unaware. We all needed, at some point or another, to coach our doctors and our medical personnel. I am not usually one for generalizations, but I am fairly sure that when I say “all”, this is certain to be the truth: people with FH (of any kind and this includes people with LP(a) deficiency) are still in the business in educating the one who should educate.

I have been at this since I was 8. I am 46 now. I have had (fortunately) a relatively long go with Homozygous FH and I have seen many types of doctors in my days. Now, since FH is gaining a fair amount of attention, since it’s no longer so much a “shruggable”, as I call it, disease, since many drugs have been made available on the market, I do find, once in a while, a doctor that gets it.

I lived in a different (much smaller and less populated) state till 4 years ago and even there, I had a cardiologist who specialized not only in the treatment of lipids, but in that of FH. He was the head of the clinical study for the PCSK9 inhibiting drugs for the entire state. He always bugged me to get on this trial and the other because he hated my LDL levels which were very high at that time and were damaging my heart progressively. I always knew what’s in the market, what’s in the research phase from him.

When I moved to my new (much bigger and with a well-known tradition for excellent medicine) state, I felt sure I had hit the jackpot. I was so sure I reached a place where access to good, informed doctors is ubiquitous. I was sure that once I get into this one medical system that is renowned not only for breakthrough treatments but also for massive amounts of research, I’d be able to be informed about the next available, most recent drug to manage my FH. I found out that FH specialists don’t really grow on trees, even in a larger state with a more developed medical tradition, but I did try to go to the one of the few people known in the community here for being successful in managing lipids and heart disease.

In my experience, a good cardiologist also has a good understanding of lipids and of FH. I thought, till today, that I found one. The cardiologist I have found here has managed my heart fairly well, and my LDL is lowest that’s ever been (http://livingwithfh.blogspot.com/2016/07/my-current-cholesterol-numbers.html).

Here’s how I ensured I am with the right person in the right medical facility:

• The medical facility I chose (in my new state there are lots of very good options) is one of the top rated in the country. Without naming it, think of the likes of The Mayo Clinic, Johns Hopkins, Emory or Cleveland Clinic.
• I researched online and the name of my current doctor (let’s call him Jon Doe) came up as the one with the most positive reviews from patients – remarkable for managing very rare or hard to treat conditions.
• One of my pharmaceutical rep friends who at the time specialized in FH drugs recommended him to me as being “the guy (at this medical facility) who gets it”  - meaning, he gets cholesterol, and he gets lipids.
• I asked my primary care doctor for a good cardiologist who manages lipids – she recommended the same Jon Doe without me ever mentioning his name which I had learned from the other sources.
• When I googled him, I pulled up an Youtube video where Dr. Jon Doe and another doctor discussed the results of a study they had just ended and whose findings had showed the importance of combination cholesterol-lowering therapy in the treatment of acute coronary disease.
• Recently, I went to see a lipidologist in the area who is renowned for his work with FH patients as well and who is not part of this medical system I wanted to be in. He asked me who am I seeing for my FH and I said: Jon Doe at (this facility). He said there are only two people in this medical system that do lipids well and specifically know how to manage FH, and that my Jon Doe was one of those two.

I was fairly certain I had my guy! Over the years I got reassurance after reassurance that I am in the right spot.

When Nexletol (bempedoic acid) came on the market, he came to me to tell me there is no wiggle room whatsoever, I need to be on this new drug to improve my LDL which at the time was hanging around 190 mg/dl. He knew about it (so did I), so I was happy that he paid attention to research. What’s more, he already knew I would not take something that is not approved, and he ensured me this is approved and I must be on it. I had good results in lowering my LDL and somewhat minimal side-effects with Nexletol, so again, I valued his opinion.  

I thought I did my due diligence. I was sure I was in the right place, with the right person. But life will teach you that there is really no such thing as a true know-it-all.

Today, I went in for my regular 3 month appointment and the conversation went something like this:

Me: Dr. Doe, what are your thoughts on Evkeeza?

Doctor: On what?

Me: Evkeeza. The new LDL-lowering drug for Homozygous FH?

Doctor: No idea what you’re talking about!

(my jaw dropped)

Doctor: Is this another PCSK9 inhibitor kinda drug?

Me (jaw still dropped): No, it’s an ANGPTL-3 inhibitor kinda drug.

Doctor: Is this an mRNA kinda drug?

Me: No, the mechanism is inhibiting the ANGPTL-3 protein, I believe.

Doctor: Nope. Doesn’t ring a bell.

Me (insisting): It’s an infusion. You get it in your vein once a month through an IV? So, I was wondering if you all will have a site for this kind of treatment soon.

Doctor (shrugged): No idea. Never heard of it. I guess I have to do some homework, don’t I? I definitely have no idea whether we’ll be a site for it or not, ‘cause I don’t know what it is.

Now, if this is not daunting to you, let me give you a little perspective:

• I am not a medical professional (I work in software). I am an HoFH patient and I found out about this drug when it was in early research stages from my pharmaceutical rep friend, but mostly from just having a google search saved for “Familial Hypercholesterolemia” that sends results to my email every time google finds anything in the news, or on any sites about the disease. The drug is made by the same company that makes Praluent which is a drug that made  a whole world a difference for me. I found out about this in early 2019, I think, but it could very well have been late 2018 or earlier?! At any rate: at least 2 years ago.
• In the fall of 2019, I went to the FH Foundation Summit in Atlanta and Evinacumab (then, or Evkeeza, now) had a table there (like many other drugs from different companies that were there) presenting the drug. I also met a person with HoFH that was at that time in the clinical trial for Evkeeza. I do want to commend The FH Foundation (https://thefhfoundation.org/) for having a top-notch site, full of valuable, up-to-date information for us, so if you don’t know where to start when you’re diagnosed with FH, I recommend their site wholeheartedly. Here’s their announcement for when Evkeeza was approved earlier this year: https://thefhfoundation.org/new-drug-for-hofh-approved-by-the-fda .
• This year, I have learned of at least one other person who is already on it. The drug has been talked about extensively in all the FH Facebook groups I am part of.

And yet my big-shot guy who is supposed to be “the guy who gets it” for lipids and FH from this big-shot, world-renowned medical system, has never heard of it. Now, I understand that you might not know the specifics yet, because it’s new, and there is a special process to administer the drug, to approve it, etc. But as a lipid specialist, not to even be aware of the research in this field is a bit of a let-down? When your medical system is one of the most research-oriented and breakthrough organizations on the planet? That is giving me pause.

I am writing all this especially for those of you who are new to FH. This is the reality of FH, still: we are still in the business of being our own advocates and still in the business of educating the doctors we see. I know some people look at doctors as the person with the knowledge, they never should be challenged, they never should be questioned. Because of FH, its obscurity, and famous “invisibility”, I have learned the hard way that I need to speak up; that I need to challenge; that I need to push. if you will, my medical staff to find solutions for me. They have the tools to do it, but sometimes they might not have the interest, or the time, the bandwidth, and maybe not the vast pool of patients to be prepared for all the answers I need them to give me. So, we need to do the educating if we want good and stable care.

My hope is that you don’t lose hope – this is more of the norm when it comes to FH. This is the reason why people like me (as an individual with FH) and organizations like The FH Foundation do what we do: to educate patients as much as to educate medical professionals. To shed light on this very obscure (still!) to some, but not always very rare disease which is one of the most common if not the most common risk factors for heart disease – the number one killer of all of us.

Much health to everyone, and keep curious. Keep informed. Never stop researching! And never stop sharing. The power we all have is in learning, sharing, and teaching others. We’ll all have longer, fuller lives if we keep at it.