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.
