Yearly Carotid Ultrasound and New Numbers

Part of the FH and heart-disease journey is to familiarize yourself with a life peppered by doctors’ appointments. And yes, that is not a typo: there will be many doctors, many specialists, and many tests during a “normal” year of your life. 

Most of the time, I see these appointments as routine. I still chuckle when a coworker takes a whole day off for a stress test and is incredibly fearful when their doctor orders an EKG or a heart echo. There is no comparison in medical journeys, and I am going to be the first one to admit that.

But I only speak for me, now; and to me, these are “the easy” tests. In fact, I have met more doctors that agree that stress tests are a waste of time and money and they are seldom accurate or reliable. So, if they allow me the privilege to choose my test (which most of my doctors do, for whatever reason), I usually skip the stress test, and go for something more invasive even but hopefully more accurate. If, that is, my insurance also affords me this luxury. 

You will find sometimes that the insurance demands a lesser (even non-conclusive) test to be performed if it’s cheaper rather than approve a more costly but a more accurate test. No, the business of medical care, especially in this country, but we are not alone, is not a fair game. 

So, this month, it was time for my yearly carotid ultrasound. Ultrasounds are not invasive, by the way, and still believed to be the first in line for basic imaging.

The results of this test used to be a little worse every year back when my LDL cholesterol was hanging out around 250+ mg/dl. But since I started taking Praluent (in 2016) which brought my LDL down to 150 mg/dl (twice the target, but still much lower), the carotid ultrasound results have been pretty stable, or stationary, showing a buildup of plaque hovering around 50%. They have been so stable in fact, that some doctors argue that I don’t have to do this test every year anymore, that my plaque seems stable and with this amount, there are no interventions recommended. So, they say, we should move the test to every 2 or 3 years. 

So far, I have not been convinced that we should do that. I have seen cardiovascular disease go downhill in less than a year with FH, so I don’t trust my body that it will ever - regardless of how well the drugs perform - stabilize in such a way where I won’t have to watch what the disease is doing to me ... So, I insist we do the tests. 

Also, the impetus of my insistence on this particular test has been my symptoms. No amount of medical science and no amount of doctor “smarts” can convince me of something my own body flags as “not right”. 

For years, I have had numbness and tingling in both my arms, all the way down to my fingernails. It is worse with exercise and it is worse in my left arm. With exercise, my shoulder, and left arm, as well as the left side of my neck become numb, almost like a huge claw squeezes every bit of blood drop out of them! 

I bring these symptoms up with every cardiology (and vascular specialist) appointment and they take notes, but offer little in return. Others venture a guess of “well, that could be neurological”. And I did have neurological studies done to both my arms (I would not recommend them to my worst enemy) and although there were some findings (ulnar nerve neuropathy in my left arm and carpal tunnel in my right), the symptoms from these afflictions are different than what I feel when I exercise. The level and the place of the numbness is different, and the feeling of the “huge claw” only comes on with effort. 

Over the years, although my carotids have been more or less stable, some of my other arteries have started to see signs of more advanced atherosclerosis. Usually, they give me a percentage of the stenosis or plaque. This year, they spelled it in no ambiguous terms: “subclavian stenosis”. Not once, but several times in the test findings they emailed me. Some branches of the carotid artery (like the right external carotid) also appear stenotic, but the subclavian is pretty much stenotic, with no doubt. No other approximations or guesses of what the percentage might be. 

In full disclosure, these are the findings from the carotid ultrasound:

1. Left subclavian artery flow appears stenotic.
2. Right CCA demonstrates significant plaque.
3. Right ECA appears stenotic.
4. Right ICA stenosis less than 50%.
5. Right subclavian artery appears stenotic.
6. The Left ICA stenosis less than 50%.
7. Flow in the right subclavian artery appears stenotic.
8. Flow in the left subclavian artery appears stenotic.

**PSV is 125-180 cm/s & ICA/CCA ratio >2.0 is also consistent with 50-69% stenosis.

**Comments right side: PST noted throughout the CCA.

My doctor is yet to reply to all this. I will wait for another week or so and then reach out for more details from him, although I am not too hopeful he’ll recommend any course of action. I have been told time and again that without close to a 100% stenosis or an aneurism, there is not much they would want to do, regardless of the symptoms (which they are more than happy to just medicate, much to my dismay!), because there are too many risks involved in performing a bypass on the arteries or even more in adding stents. 

But this is why I insist on repeating the test every year: what if, from one year to the next, we go from "stable" to an aneurysm, or even a tear? What if, like this year, we go from “50% to stenotic”. 

In lieu of a doctor’s feedback, I, of course, turn to the internet. And this is what the Cleveland Clinic says about the symptoms for subclavian stenosis:

• Muscle cramps when you use the affected arm.
• Arm pain or tiredness when you use the affected arm.
• Tingling or numbness (paresthesia) in the affected arm.
• Dizziness
• Fainting
• Vertigo 

I have experienced all of them for years, except for the last 2. My dizziness occurs daily now. And most if not all of these are not related to ulnar or carpal tunnel neuropathy.

As I understand (and as I have lived) it, stenoses (many of them everywhere where there is an artery) are a byproduct of FH. Just the normal collateral damage that years of high cholesterol has done to your blood vessels. 

The little bit of a good news this month has been the continuing dropping LDL numbers (thanks to the new Evkeeza infusion which seems to be going well). 

I have to literally pinch myself every time I get the new values after my infusion treatment that shows my LDL in the two-digit range. As you can see, I come from a (“natural”) LDL of 520! I still cannot believe the LDL of 65 mg/dl is mine! I wonder every month if they got my blood mixed up with someone else’s. 

I cannot thank medical research enough for the advancements they have made during my lifetime. This disease that was nothing but a death sentence to me, when diagnosed at 8, has become something I can manage now. This is why it is so paramount that we encourage medical research going forward. It gives not only hope, but literal life to people!

The hope is that I am not adding more damage to my arteries by adding more cholesterol to what has already accumulated there for the past 45+ years. But there is plenty of damage done already and with an aging body and inevitable hormonal changes, I must still continue to stay vigilant and repeat these yearly routine tests, just to understand what is still going on and to have a chance to plan, if faced with an ultimatum. And as I have known several times in my life - ultimatums do happen ...

In this scope, regardless of doctors’ orders, I will continue to fight to know more and not less; to stay on top of every change and progression, such as it will be. 

Abdominal Stenosis

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

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

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

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

The December 2021 abdominal CT scan results show the following: 

• Small caliber abdominal aorta with extensive soft and calcified plaque

• Narrowing of the infrarenal abdominal aorta

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

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

The September 2023 abdominal CT scan results show the following:

 

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

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

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

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

New (good and bad): 

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

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

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

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

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

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

 

My Awareness of Lipoprotein(a)

I must admit: for someone steeped in reading materials about cholesterol, I am sometimes a bit puzzled by lipoprotein(a). I will try to explain in what follows how I first learned about it and what resources I have used to learn more about it. Also, in my FH journey, I am also seeing  a lot of people wondering what kind of specialists they should see. I mention a few of the ones I have used to understand more about this special lipoprotein. 

I have known I have genetic high cholesterol since I was 8 years old. At the time (in 1983 Romania), they were just measuring total cholesterol (which mine was 734 mg/dl) and triglycerides. They did not measure all the different fractions of cholesterol you now see on your lab report, like LDL, HDL, VLDL, cholesterol ratio, etc ... 

They started measuring my LDL (in addition to the total cholesterol) in 1998 when I moved to the United States and I was 23. At that time, my LDL was 475 mg/dl. I have known since I was 8, with the original diagnosis, that I had an increased risk for early heart attack or stroke, and I knew this not just from the literature available at the time, but also from my own family’s history. 

But I did not hear about lipoprotein(a) until 2009. That’s right, this is 26 years since the original diagnosis, when I was 34 and had already been diagnosed with atherosclerosis, cardiovascular disease and coronary artery disease. The gentleman who first spoke to me about this new cholesterol particle called lipoprotein(a) was a pharmacist by trade who was running the lipid program at my cardiologist’s office. The cardiologist that I was seeing was absolutely stellar and knew a lot about dyslipidemia in general and hypercholesterolemia in particular, but he left the treatment of it to his pharmacist who was more in-tune with the newer treatments.

The pharmacist said at the time that in addition to knowing my LDL cholesterol (which at the time was 252 mg/dl), we need to also understand the value of lipoprotein(a) which is a newer cholesterol fraction that is also considered to increase the risk for cardiovascular disease. 

According to the Wiki (https://en.wikipedia.org/wiki/Lipoprotein(a)), lipoprotein(a) was discovered in 1963. This is 12 years before I was born. So, for me to first learn about this at the age of 34, you can say news travels slowly in the medical profession, or at least used to. 

In 2009 when I first learned about it, the test for lipoprotein(a) was not covered by any insurance and only some labs were performing it. So, my pharmacist that was running the lipid program  sent my blood out somewhere else in the state to be analyzed. The result came back as 18 mg/dl and he concluded that it was great - not elevated at all. 

Over the years, the test has become more and more routine. It is still not performed as part of a routine cholesterol check and you still need to ask for it specifically. But it is covered by insurance and just about any doctor can order it (not necessarily a specialist, like a cardiologist or lipidologist). The doctor must have a legitimate concern about your risk for cardiovascular issues, based either on other cholesterol levels or family history. 

 

Many doctors have told me that there is no need to re-measure the lipoprotein(a) (like they measure the LDL every 3-4 months) because it stays the same for the length of your life, barring any severe disease (like a huge infection or cancer which I did not have). However, some doctors wanted it measured when they saw me for the first time.

You will find that some labs measure it in mg/dl and others in nmol/l which can make a difference too. So, occasionally, when I had to switch doctors the new ones wanted to have their own tests in hand from their own labs, measured according to their standards, so they re-did the lp(a). 

This is how I know for sure that for me, lp(a) did not stay the same. Not even close. As you can see from the table below, it has been continuously going up, although my LDL cholesterol has been going down. Also, as you can tell, the unit of measures are not consistent. 

The FH Foundation’s website (https://thefhfoundation.org/high-lipoprotein-a-101) notes that lp(a) could also increase at menopause and you can say that I might be reaching that age and this could probably be an explanation for the increasing levels in the past two years (I am 47 now). 

Click for a larger view

Over the years, I have also seen people who have a severely elevated lp(a) and close to normal LDL. They typically have had either a cardiac event or have been diagnosed with cardiovascular disease - something I am familiar with as an FH patient. 

So, during my lifetime, I went from a definitely normal lp(a) value at 18 mg/dl to an elevated one at 63 mg/ dl, despite my expectations being set in the beginning that this should not be a concern for me, as the lp(a) remains relatively stagnant throughout our lives. As it stands today, according to the last lipidologist I saw last year, I now have a double risk for cardiovascular disease. Before he even measured the lp(a) he said he expected it to be elevated. Of course, with a complex open-heart surgery and a heart attack in my recent past, this is no surprise at all. 

LDL has always been my nemesis, so I have always kept a close eye on that. Luckily, there are therapies that help keep my LDL as low as possible for me (I have Homozygous FH so it is hard to keep it at a normal level), but from what I know now, there are no therapies available on the market for lowering lipoprotein(a), outside of lipoprotein apheresis . However, some treatments are in the works: the FH Foundation’s site talks about possible future available treatments here (https://thefhfoundation.org/treating-high-lpa#:~:text=Lipoprotein%20apheresis%20is%20currently%20the,(a)%20from%20the%20blood.) 

Another thing that is different from FH is that elevated lp(a) is actually very common: about one in five people have elevated lp(a) whereas about one in 250 people could have HeFH or about one in 250,000 people could have HoFH. 

During my lifetime of 47 years, I went from not knowing about lp(a) at all to now, not only learning about its existence, but also about the risks it poses for people like us, to then learning about the frequency with which it can occur as well as seeing possible new treatments for it in the near future. Today, we have a foundation (The Family Heart Foundation - https://thefhfoundation.org/)  that advocates for awareness for lipoprotein(a) and we even have an International Lp(a) Awareness Day on March 24. 

I wanted to take this moment to celebrate this day by remembering my own journey with lp(a). I also wanted to celebrate  the progress that science and patients, warriors like many of us, have achieved through the years in giving us more resources and creating more awareness about this silent killer. 

Happy Lp(a) Awareness Day, everyone! Stay healthy and always know your numbers. 

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!

 

 

 

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.