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.

A Visit to the Lipidologist

It’s pretty unusual that I have had a rare lipid disorder all my life and although I have had more doctors and specialists than I can count, none of them was technically a lipidologist. I have seen cardiologists, endocrinologists, cardiac surgeons, vascular specialists and vascular surgeons who could manage lipids, but never a lipidologist.

Because I am constantly trying to learn more about my specific type of HoFH and because I have some concerns that some people on my current heart team have some gaps in understanding the risk factors for cardiovascular disease when it comes to FH, I wanted to get an expert’s opinion about my case and to confirm that the plan of action we have is appropriate.

The new doctor was a great combination of informed-aware-familiar-with-FH, as well as empathetic and down-to-earth. I felt like he listened, he followed my history closely, and he gave me his opinion about things I have tried in the past, things I am doing now, and painted a tentative picture of what he thinks my future might hold, if one can get so close as to predict that.

To make a very long (the appointment took two whole hours! Longer with new blood tests.) story short, these are some of the learnings from this visit:

• He agrees that given my cardiovascular history and the fact that I still have progressing disease (in the form of increasing stenosis) at least in one area of my arterial system (abdominal aorta), I need to do more to lower my LDL number as well as my apolipoprotein B number (which goes hand-in-hand with the LDL number). Lowering the numbers to the lowest possible for me (we’re shooting for under 70 mg/dl for the LDL) should hopefully stop the progression of atherosclerosis. He very clearly said he is in the business of “preventing and diffusing the bomb” and not in the business of “cleaning up the mess” after the bomb (usually a heart attack or a stroke) has gone off - which sometimes is the business cardiologists and vascular specialists are in. He advised to rather not wait for new symptoms be them in my heart or carotids, or abdominal aorta, but to be proactive about bringing my LDL (currently 125 mg/dl) down more. My vascular specialist believes that we need to wait for an abdominal aneurysm or inability to eat before we can address the stenosis in the abdominal aorta.
• He thinks I am on the right combination of drugs at this point in time. He thinks I am on everything that is on the market and successful for HoFH and as a bonus, I seem to respond well to this cocktail (Lipitor, Zetia, Praluent, Nexletol). He would add Juxtapid, which I have denied accepting due to severe side effects (https://en.wikipedia.org/wiki/Lomitapide) and possibly a new drug that’s coming out of Regeneron, approved earlier this year (https://www.evkeezahcp.com/). We'll wait to see about this last one for a bit, because no one seems to know what the process for administering it and approving it seems to be right now.
• He explained that I am somewhat of an anomaly:
• According to the genetic test I had done, I have a pair of the same exact bad gene to account for my HoFH (https://livingwithfh.blogspot.com/2017/08/the-long-journey-to-hofh.html) . He said more common, you see two bad genes that are different and both “bad”, but mine are two identical bad ones which makes me a “true homozygous as opposed to a complex heterozygous case.” Apparently my case is much rarer than the “one in 250,000 people” which is what the frequency of HoFH is estimated at.
• Because of this profile, I should not (research shows) respond as well to statins or any other medications as I do. It is strange/ unusual that I respond as well as I do, but obviously, this is my lucky card in the bad hand I drew at birth.
• He is puzzled as to why I don’t show a corneal arcus which is common for people with HoFH and with higher level of cholesterol (https://en.wikipedia.org/wiki/Arcus_senilis). I have never had one. He did find Achile’s tendon xanthomas and a xanthoma on my left eyelid which are on par with the manifestations of the disease.
• He explained the importance of the Lipoprotein (a) and apolipoprotein B in the cholesterol profile and his opinion is that these particles are as important as the level of LDL in understanding the cholesterol profile as well as the level of risk for cardiovascular disease. He repeated the tests to measure both – just to get a baseline. He advised that we should always measure the Lipoprotein (a) in nmol/ l instead of mg/dl, as the first unit of measure is more today’s standard. He did say some labs (the one my cardiologist has been using included) are slow to follow the new standard (nm/l) and the conversion (from mg/dl) doesn’t always work.
• He congratulated me for a lifetime of not smoking, saying that is one of the most common things people with heart disease do not understand: how dangerous smoking can be for CV disease. I told him that people in my own family with the disease don’t get it either.
• He is also concerned about the inflammation that I have in my body, which no one seems to correctly diagnose. We know there is inflammation but we don’t know what kind. The tests are inconclusive, but the symptoms (rashes, hives, joint pain) are indicative of it. He said whatever I do to keep inflammation down is a sure benefit for CVD. For this, I mainly watch what I eat, am on a vegan diet with just occasional cold-water wild fish.
• He ultimately did not change anything in my current regimen, but he underlined the importance of staying on top all the “vascular beds” (he called them) that show advanced disease (the heart, the carotids, the abdominal aorta, and the peripheral arteries in the legs). My cardiologist is monitoring the heart, legs, and carotids, and I am yet to find someone who can monitor my abdominal aorta which is stenotic.

The results of the tests he did when we visited came back a couple of days ago and the levels for the “other” lipids are both elevated:

• Lipoprotein (a) = 88 nm/l (it is normal up to 73nm/l)
• Apolipoprotein B = 134 mg/dl (it is normal up to 110 mg/dl, or up to 80 for people with additional risks for cardiovascular disease).

He admitted  that he expected at the very least that the apolipoprotein B to be elevated because that usually goes hand-in-hand with the levels of LDL and we already know that is elevated. It made me wonder if this is the reason why a regular doctor (like my PCP or cardiologist) never checks this fraction of cholesterol. The fact that my Lipoprotein(a) is also elevated adds yet another risk factor (in addition to elevated LDL) to my CVD. The drugs I am on should affect the numbers of the LDL and apolipoprotein (B), but there is no known therapy for lowering the Lipoprotein(a) yet. A regular doctor would never order these cholesterol fractions as a routine. I have had them checked before when someone suspected FH, but not as a routine blood check that you do when you have your physical once a year. From everything I have read and from what the lipidologist said, it is important to know the level of Lipoprotein (a) as this is a standalone risk factor for cardiovascular disease, just as important as elevated LDL which is something checked routinely.

As a conclusion – I did get some new learnings from this visit, even if it was just a new perspective and a new way to look at the numbers. I always strive to learn as much as I can from as many specialists as I have access to, to ensure I have the best possible plan of action in place. I have said it before and it is a platitude nowadays, but … knowledge is power. Not just the knowledge one can find on Google, but that of a person who dedicated their research and professional life to bettering the lives of people with a disease such as ours.

In the end, I made the decision to stay with the current cardiologist as it seemed that the course of action the lipidologist would follow would be identical to the one I am following now. Transferring the drug management which includes at least a couple of preapproval processes (for now, maybe more than two in the future) for drugs that I am on is a bit of a pain in the American medical system. My cardiologist has the preapproval process down to a science, and this offers some peace of mind, for sure. Of course, validating that he’s on the right track with the current regimen he’s had me on by comparing his course of action to that a lipidologist would follow, is also reassuring. With my heart history, I could never give up the cardiologist, either – so, this way, I feel like I get good care in both lipid and heart management.

I am still looking for a specialist who can monitor my progressing disease in my abdominal aorta. Even with lowered numbers (granted, not ideal), the stenosis seems to be advancing (https://livingwithfh.blogspot.com/2021/04/educating-doctors-visit-to-my-vascular.html) from one year to another. So, onward we go.

 

 

Beware of Unknown Tests and Bogus Charges

The “real” story is long and convoluted, as all medical stories are. But I will distill it to a simple recount: they did one test (MRI); they charged me for three.

I have several MRI/ ultrasound/ CT-scan/ doppler appointments a year to check for various things in various areas of my body: I get a heart echocardiogram (or ultrasound) once a year; a carotid ultrasound, a leg doppler and a stress test (sometimes a nuclear stress test) every two years, and now, more recently, an abdominal MRI (sometimes, ultrasound) every year. They are keeping an eye on various areas in my body that show arterial stenosis due to the built-up of plaque.

This new (and soon to be former – see: http://livingwithfh.blogspot.com/2021/04/educating-doctors-visit-to-my-vascular.html) vascular specialist doctor ordered an abdominal MRI with and without contrast. The day of the test, I checked with the technician that was supposed to do my actual test what exactly the test was – like I said this was a convoluted story and there was some iffiness from the doctor’s office about what test was actually ordered from the radiology department, but I knew that the one thing I was there for, the one thing the doctor and I agreed upon to watch, was my abdominal aorta. So, I was expecting an abdominal aorta MRI.

The radiology technician confirmed he was about to do an abdominal MRI with and without contrast. I was good.

And then, the results came a couple of days later in MyChart: the radiology department had apparently done the following tests that same day:

·       CARDIAC MRI HEART MORPHOLOGY AND FUNCTION W/ WO CONTRAST

·       CARDIAC MRA CHEST WITH AND WITHOUT CONTRAST

·       CARDIAC MRI ABDOMEN ANGIOGRAM WITH AND WITHOUT CONTRAST

I opened each of these tests in MyChart to look for the results of each one. They had copied and pasted the exact same results from clearly an abdominal MRI test: there was no mention of the heart, no mention of the chest arteries, no mention of the heart morphology – there were just mentions of the abdominal aorta, the renal aorta, the mesenteric, and iliac aortas. Also, I noticed that one of the tests said “cardiac MRI angiogram” and what I had was not an angiogram … And each of the three tests had identical – letter for letter – results. Obviously, they were not the same test (why the different names?), but they had the same findings. I was just a little bit upset, you can say.

I panicked, because I know that when the doctor says they did a test and it shows up in your MyChart Test Results section, the next place you’ll see them will be in your bill. I have done these tests enough to know they are never lower than a couple of thousands of dollars (usually more) each.

I approached the mix-up with the doctor who ordered the tests, and he insisted that all three of them had been done. I asked him to show me the results of all of them. He could not – he had the same results three times over, as did I, on my end, in MyChart. He insisted that the tests were done (although I told him time and again that I verified with the radiology tech about what test I was receiving and he did not say I was getting three tests), and that the radiology doctor sent the wrong results. The doctor contacted the radiology doctor after I left his office.

I was almost in tears, because by then I had received the bill which showed I owed roughly $12,000 – about $4000 for each of the three tests. I am lucky to have insurance, but I had not met my deductible and even after that, I was still responsible for a chunk of the cost. It also felt unfair that even the insurance should have to pay for tests I did not get nor that were needed at that time.

A couple of hours after I left the doctor’s office the doctor himself called me to apologize: he talked to the radiology doctor and they had made a mistake: they in fact confirmed what I said all along, that they had performed one test and that was the abdominal MRI without the angiogram part of it and that the other two should be taken out of my account.

A couple of days later, the head of the billing department called me with an apology to assure me that I will only be responsible for one test, an abdominal MRI, and that the other two will be taken out of my bill. I told them the bill was already sent to the insurance who paid their share and they assured me they will refund the money to the insurance and that the insurance overpaid (how many times does this happen: hospitals reimbursing insurance companies?!).

In the end, the final bill was for around $4000 for just one of the three tests, but I wonder how many times this slips and people are overcharged for what they did not get done. Especially for chronic patients, like us, who have a number of tests done every year. I know people who are not savvy enough to read their results online and see what they describe; they just trust what the doctor says and move on. They would have received the bill, shaken their heads that the darn medical system is way over-bloated (which still is) and would have paid.

Some lessons this has taught (or reminded) me (of):

• Always pay attention to the tests they recommend and try to understand what they are for and whether they are needed.
• Question multiple tests – are they for the same thing? Can one test cover the scope of all the multiple tests?
• Ask the doctor to explain whether you need an MRI or would an ultrasound (typically cheaper, but not as accurate as an MRI) be good enough? For areas that are larger (think a whole organ versus one small artery), ultrasounds are usually enough.
• Always read your results and try to make sense of them even if it is just to ask your doctor additional questions about your treatment plan.
• Look at your bill twice: does each charge verify and match your real experience. If not, call the doctor’s office first; remember that the insurance only bills for what they receive from the medical institution. Start with the doctors/ clinic/ hospital to understand why they told you one thing and sent the insurance something else.

In short, as always: stay alert and be your own advocate. Always.