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.