[Anna Dhody] Hi, I'm Anna Dhody, Curator of the Mütter Museum and Director of the Mütter Research Institute.
And this is another video in our "A Heart Apart" series.
In this installment, we're going to be discussing the actual
pathological condition that necessitated the heart transplant. So let's get to it!
Earlier this year, we posted a video where we unboxed a human heart that had been
donated to the museum. And a lot of you in the comments noticed something — this heart is bigger
than the average adult human heart, like a lot bigger. And you were totally right. It is bigger!
That’s because the donor had a condition called acromegaly. The donor's name is Rob, and he came
to the museum in July of 2021 to see his heart on display and to answer some questions about
his particular experience with his condition.
[Rob] When we became aware that there was something weird is when my cardiologist
said something about how much different I looked than people that were
our same age we graduated high school with. So we started doing research and that's when it's like,
"Oh! This has been around a long time." The changes are so subtle, even over a long period of time
seeing doctors it's not recognizable until it's too late, the damage is done.
[Anna] But to understand his story, we need a brief introduction to acromegaly itself.
Okay, first the basics. Acromegaly is a condition where the brain pumps out more growth hormone than normal.
Most cases are caused by a tumor on the pituitary gland, the part of our brain that makes growth hormone.
As you probably guessed, growth hormone helps our bodies grow. It can stimulate muscle growth by itself,
but it also causes the liver to pump out a hormone called insulin-like growth factor 1, or IGF-1 for short.
In a normal healthy person, this hormone circulates around the body and stimulates
other body parts, like bone and connective tissue, to get bigger. But people with acromegaly produce
way more of those hormones, which causes certain body parts to grow bigger in a healthy body.
In fact, the "acro-" in acromegaly is short for the most common presentation: acral enlargement,
meaning peripheral, or arms and legs. If you are a doctor diagnosing this condition,
you would look for swollen hands, feet, nose, and ears.
[Rob] I mean, my hands were big, my feet were getting bigger since I was in my 20s.
My wife and I were always discussing, why did my ring change? This is not normal. I mean,
my hands were the size of a baseball glove. People that we knew called me "alien." Like, "You bleed green?
Because there's definitely something wrong with you, something odd about you."
But when you're odd, the odds are with you.
[Anna] In fact we have here two models that were cast from objects in our collection, and they are hands
that were cast from actual people with acromegaly. So this is the hand of an adult
male with acromegaly. He lived in the 1800s and here's a good comparison. Now my hands are a little bit smaller
than normal, but I think it's a good visual, you kind of get the picture here, right?
Quite big. And here's another cast. This is from a different individual, but also
cast from an actual person with acromegaly. Again, when they say enlarged and swollen,
they are not kidding. It's quite a significant visual condition.
Now we also have here a skull of an individual with acromegaly. This is not from our collection, this is just an
educational cast that we have to illustrate. But you can see, again, this is a very robust skull.
The condition, you can see, brow ridges right here. So this is an extra bone that was placed down.
You can also see here along the suture lines, where the bone has actually bumped up
around the sutures, and that's because the sutures were already fused, so they couldn't
enlarge that way, so they just kind of bump out. Very interesting. The the mandible, the jaw, is
also extremely robust. And in the back of the skull, the occipital bone sticks out, it's very prominent.
These are all visual characteristics that can be associated with acromegaly.
But acromegaly patients can also present with joint pain, extra thick skin, carpal tunnel syndrome, and enlarged tongues.
[Rob] My tongue had gotten so big, if I closed my mouth, I chewed on both sides of my tongue. Just closing my jaw.
And I mean, I remember having dentists like, "You have a big tongue."
When they go to do your teeth, they grab a hold of it and move it to the side like a dog or a
horse kind-of-thing, and it just felt kind of weird.
[Anna] All those elevated hormones take a toll on the heart, too.
At first, that extra growth hormone and IGF-1 cause the heart muscle cells to get bigger
and squeeze harder, which enhances how much blood the heart can pump. Eventually, though, the bottom
chambers of the heart, the ventricles, start to grow. And while it sounds like a more muscular
heart should be a good thing, it's not. The growth comes with inflammation, which eventually replaces
the healthy heart tissue with fibrous scar tissue. The normally squishy, elastic heart then turns into
a stiff, inflexible chunk of muscle, which means it can't fill up with blood as well, or pump blood as efficiently.
[Rob] What actually started us looking into the heart was, I went to give blood
at a blood drive, and the tech said, "You have a murmur." I'm like, "No way." And he said, "We'll take
your blood this time, but you need to go see a doctor. We won't take it again without a doctor's..."
[Anna] In a last-ditch effort to keep its ability to fill with blood, the heart chambers balloon outwards...
[Rob] And we moved to Colorado, and the cardiologist there was like, "You got bigger problems than you think you do."
And my heart was pretty big, it was about 60% larger than it should have been.
And she said it was because the mitral valve was leaking. So that's when we did my first cardiac cath.
I took my medicines and did all my stuff, and then it was not until 2008 that I
started seeing another doctor about more serious issues. That's when my electrical issues started.
I think at that time is when my wife and I were discussing, "It's just going to be a progression."
More medicines and I had ablations. A quarter of my heartbeats were PVCs.
And then they did an AFib ablation and that worked for a little while.
And then we tried different arrhythmia medicines and they didn't work.
[Anna] In about 3% of acromegaly patients, this leads to a type of heart failure where the heart can't deliver oxygenated blood to
the rest of the body efficiently. Acromegaly might lead to other diseases, too, especially
high blood pressure, other heart diseases, and type 2 diabetes.
In the end, acromegaly doesn't kill you, these other diseases caused by acromegaly do.
But each person with acromegaly presents slightly differently, which makes it tricky to diagnose someone.
[Rob] There's some people that are really deformed from it that have, from what I understand, not really high
IGF and growth hormone numbers. And there's some people that have super high numbers that aren't affected the same way.
Everybody is affected different. We went to a conference in 2018 in New Orleans.
Just the gamut. How people look, how they're affected.
[Jill Sisco] Hi, my name is Jill Sisco. I am actually President of Acromegaly Community.
We just started out as a small support group online, but over the years we have grown to
more than 3,000 patients. The current state of public awareness with acromegaly really isn't
very good. Even with physicians, a lot of time isn't spent on rare conditions because even a lot of
endocrinologists will never have an acromegaly patient that they have to treat. And a lot of
the time, people are misdiagnosed with other common conditions rather than finding that it is actually acromegaly.
[Rob] I was asymptomatic, I was an AFib. They couldn't figure out how I could function the way I was functioning and doing things.
But gradually, I got to the point where I was sleeping two or three hours at work every day.
[Anna} Luckily, doctors are working on new ways to identify acromegaly as early in someone's life as possible.
One way is to take someone with those classic physical signs, like enlarged hands and feet,
and test them for elevated IGF-1 in their blood.
But if they don't have those physical manifestations, doctors look for conditions that are associated
with acromegaly--like sleep apnea, arthritis, high blood pressure, or type 2 diabetes--and then check for IGF-1.
You can also get imaging like an MRI or CT scan done to try and spot the pituitary tumor.
You could also find acromegaly with an oral glucose tolerance test (OGTT), basically giving someone some sugar.
See, we'd normally expect people to pump out less growth hormone in response to sugar,
but since folks with acromegaly always have elevated growth hormone, a glucose test like this
wouldn't change growth hormone much, which is a clue that something's wrong.
[Rob] It's called a OGTT. It's a glucose tolerance test for your blood, how your blood responds to glucose.
So I had that test done, and they were like, "This is the first time we have this diagnosis," and
he got all excited about all things I needed to do. But he knew a specialist in Santa Monica Dr. Daniel Kelly.
He called me, I had a CT scan done. They barely saw any shadows. They wouldn't do an
MRI because I had my defibrillator, and they can't do an MRI with the model defibrillator I had.
He said we got to schedule surgery. So we scheduled for July 10th. So that was three weeks later.
[Anna] Otherwise, one of the clues is age. Acromegaly is usually diagnosed in someone's 40's. On the
flip side, if someone pumps out too much growth hormone as a child, their condition is called gigantism.
We actually have a great example in our museum: the Mütter American Giant.
[Jill] It is generally easy to diagnose if it becomes active as a child because a child shoots up in height. Your growth
plates haven't closed and so you typically end up with acromegaly gigantism.
[Anna] While we know that acromegaly is a rare disease, we don't know exactly how many people have it. As of 2017, estimates say
that 2.8 to 13.7 per 100,000 people have the condition at any given time. I know that sounds like a pretty wide range,
but it's an effect of how rare acromegaly is. When different institutions report on it, they're reporting
a handful of cases while they have populations in the millions. Plus, it takes about five years for someone to start
realizing that something is happening to their body, which results in a delay of diagnosis.
[Jill] Someone gets this as a child and has gigantism, that's easily recognizable.
But when someone gets this as an adult, they don't shoot up in height, so it's so
much more difficult to be diagnosed. Acromegaly may be rare, but I truly believe that it is extremely
underdiagnosed. How many people are walking around undiagnosed just because we don't look like what
the textbooks show? Which the textbooks typically show the worst case scenarios.
[Rob] We asked the doctor in Colorado that did the first angiogram. "Why? Why is his heart big?"
"Well we think it's from his valve leaking because the extra pressure from... and that's what happens normally..."
They never went any further. They just never went-- until Dr. Sherman in California, he was the one
that made the suggestion after doing some of his own thinking about it.
When he said something about it and then we started researching acromegaly, it was like,
oh, there's a lot of answers to a lot of things that have been happening for 15 years.
[Anna] If it's left untreated, the disease ultimately leads to an average lifespan reduction of 10 years.
But if it's treated and controlled, people can live fairly normal lives with the condition.
[Rob] I think if Dr. Sherman wouldn't have brought up what he did about getting the tests for acromegaly,
it would have been more dire. They might not have ever caught acromegaly
until it was way too late and then it wouldn't have made a difference.
[Anna] Because more people are aware of the disease these days, they're getting help earlier, which gives them a better outcome in the long run.
[Rob] If we probably would have been diagnosed back in 2002, when I had my heart surgery back then about my enlarged heart,
then I probably wouldn't have a heart transplant. My heart wouldn't be as big as it is.
[Anna] Ultimately, the main goal of the treatment is to treat the underlying tumor, if they have one, and get these IGF-1 levels
back to normal. If the tumor is small, doctors have a pretty good success rate surgically removing it.
Alternatively, they can do radiation therapy for the tumor if surgery isn't an option.
[Rob] I remember they gave me a flyer that had the same picture on it, how they were going to go through your nose...
I'm like, "We're going to do what?" Dr. Kelly, he barely saw a shadow and he's like, "There's over 98% chance that
your tumor is by your pituitary gland. We're just gonna go in and get it." And then they're gonna
go right next to your carotid arteries and right through your optic nerves. They have sonar in there
and they're listening before they cut through your dura so they don't catch your carotid artery.
With the tools they have, they have peripheral vision like we do normally. So when I saw the videos of
what they did, when they go into the area, your cavity down there looks huge in their video.
But when you look at the pictures, it's like, "There's no room for error."
After the pituitary surgery, my blood levels went to normal within a few hours. My wife noticed my facial features were
softening, my eye sockets, and the soft tissue. My fingers almost instantly started to shrink.
[Anna] There are a handful of medicines that help the condition, like somatostatins,
which turn down the release of growth hormone and can improve some of these cardiac comorbidities.
Or there are growth hormone receptor antagonists. Instead of turning down the release of growth hormone,
these turn down the binding of growth hormone, which then keeps it from releasing IGF-1
from the liver. There are also dopamine antagonists, which work like somatostatins do, but not as well.
Unfortunately, none of them treat the underlying tumor.
[Rob] When we talked to Dr. Kelly, his urgency was because of my heart. And I had asked him several times,
"Is my heart going to shrink like the rest of me, the soft tissue was?" His words were, "We hope so." It did not.
[Anna] All that said, if nothing else worked and the patient still has heart failure that wouldn't get better,
they may be eligible for a heart transplant. And that's exactly what happened to Rob.
[Rob] Then my electrical issues became more severe. And that's why I ended up with a transplant, it was because of my
electrical issues. When you get something like that, the electrical just gets worse and worse.
My doctor was pretty excitable because my heart was the second largest heart he's ever seen.
And he's been doing transplants for well over 20 years.
[Anna] He was one of those unlucky ones in a fraction of a percent of people who get acromegaly and also experience heart failure.
[Rob] From what I've seen and the reports that I've read from the men's group and the regular support groups for acromegaly,
there's more and more endocrinologists sending their patients to cardiologists.
The size of my heart was more of an oddity that's been out there.
[Jill] I do know many, many people that do experience heart conditions, but Rob is the only person that I know that
has had a transplant. There were many times that we didn't know if he would see today, and look at the
difference that he's making because he did survive. You know, he is a true inspiration to all of us.
And I really have to give him cheers for donating his heart to science, for allowing
it to be viewed by people, and trying to make a difference when it comes to this condition.
[Rob] Not quite what I imagined. That's frightening. [Lowell] Yeah, this is a big one.
[Rob] That's pretty frightening. Frightening that it still beat!
I walked in there and I was expecting--I don't know what I was expecting. It's odd to see part of you that kept you alive
sitting in a little glass box. It's pretty surreal to see that that's going to be there for a long time.
To know that other people will be able to see, and if they're doing any kind of
studies on anything medical, they'll see what kind of things acromegaly can cause.
That's pretty cool.
[Anna] Thank you for watching! We hope this installment gave you some more context about the newest
specimen in our collection. Stay tuned for more videos about Rob's medical journey.
Don't forget to like and subscribe. I'm Anna Dhody, encouraging you to stay disturbingly informed!