Frequently under-diagnosed and frequently under-treated, two phrases to describe a rare
life-threatening condition we’re about to discuss in our Behind The Mystery Rare and
Genetic Series. Our guests this morning are Dr. Franck Rahaghi, a Pulmonologist with Cleveland
Clinic Florida, and Jessica Armstrong, who is a patient and a rare disease advocate working
with the Pulmonary Hypertension Association. Good morning to both of you.
Good morning. Doctor, I want to start with you. We’re talking
about a disease that is called Chronic Thromboembolic Pulmonary Hypertension, CTEPH for short. What
exactly is it? So CTEPH, or Chronic Thromboembolic Pulmonary
Hypertension, happens when perhaps clots form in the legs, they go into the lung, and sometimes
they don’t go away. They get stuck, and this causes patients to feel short of breath, dizzy,
having chest tightness. And that’s when they have to really be aware of this, that they’re
not supposed to keep having these symptoms after a few months of treatment. And if they
are, they should seek help because this could be CTEPH, meaning the clot is stuck and the
pressures are remaining high. Now, about 1 in 25 patients with acute pulmonary embolism,
or 3.8%, may develop this condition. And the symptoms, the shortness of breath,
the tightness, the difficulty breathing, they look like so many other things. Myself, and
a lot of other patients that I know, have been misdiagnosed first with asthma or COPD.
So it’s so important to ask these questions and to really keep pushing if you don’t think
you have the right answer. And how is it diagnosed because you’re giving
me some symptoms that I can actually think of some people that I know that feel that
day in and day out? So, how is this one diagnosed? So there’s really two sets of people. There’s
two ways to get to this diagnosis. The most important one, and the most prevalent one,
is patients with acute pulmonary embolism. After you had a pulmonary embolism, if you’re
still having symptoms and it includes shortness of breath, you should make sure that they’re
checking the pressures in your heart to see if there is pulmonary hypertension, if the
pressures are high. Now the other set of people are actually people who do go to their doctors
because they’re short of breath. They do or do not know if they have a pulmonary embolism.
They’re found to have pulmonary hypertension, but the work-up of the pulmonary hypertension
is not complete. So people forget to look for clots in the correct way, which is with
a VQ scan, or a ventilation/perfusion scan. So even in some centers the work-up is not
done completely. Exactly and then, of course, the patient leaves
there not knowing what they have. Now Jessica, let me bring you in. I know you were diagnosed
with CTEPH, and you were diagnosed in a very far-away place. Tell me what happened, and
it was frightening moments for you I think. Yes. So, I was serving in Afghanistan and
I suddenly collapsed. Oh!
I was taken to a hospital and found to have five pulmonary emboli. So they medically evacuated
me from Afghanistan. They took me back to the U.S. where they were treating the blood
clots for a number of months, but I wasn’t improving. I had consistent and increasing
shortness of breath. And you have no idea.
Yeah. I couldn’t climb a flight of stairs. I kept passing out. I was dizzy all the time.
So, I got orders to go back to Afghanistan and I decided to seek a second opinion. So
I went to see another doctor who actually did the ventilation/perfusion scan and a right
heart catheterization, and diagnosed my pulmonary hypertension. At that point they told me I
had about five months left. Five months left to live?
Five months. How old were at the time?
I was 29-year-old. Were you petrified?
I was. I couldn’t even imagine being in that place.
Because obviously before then nothing was going on. Just suddenly this happens. I know
you have a strong message here. Your story is so powerful about letting viewers out there
know that even if you have these symptoms and you think it’s nothing, you want to tell
them what? The first thing is keep asking questions.
I made it to a good center that had expertise specific in my disease. They knew what they
were doing and they were able to improve my life very much. I’m doing wonderfully today.
So trust your body, trust your instincts, and ask questions. If you’ve had a blood clot
and you’re not getting better, especially in your lungs, and you see that progressive
shortness of breath. You’re tired all the time. You can’t climb a flight of stairs.
Ask the question because it might save your life.
And I have more questions for both of you. So stay right there please because when we
come back we’re going to discuss more about what support is available for patients with
CTEPH and caregivers as well. So stay right there.
Welcome back, everyone. We’ve been discussing a rare and life-threatening condition called
Chronic Thromboembolic Pulmonary Hypertension, or CTEPH. Rejoining us are Dr. Franck Rahaghi,
a Pulmonologist and, of course, Jessica Armstrong, who is with the Pulmonary Hypertension Association
and a patient as well. Jessica, let me bring you in now. I know it’s important to talk
about advocacy groups. You are part of one. Tell me why it’s important.
The Pulmonary Hypertension Association does so much to connect patients with resources.
We have 245 support groups all over the country. I can’t tell you the impact it has the first
time you meet someone else who understands your story and your experience exactly.
Because you feel so alone, right? Exactly. It’s such an isolating experience.
What is this thing? I’ve never heard of it. Am I dying? What’s happening? You need support.
We’ve got educational resources for patients and medical professionals. We have a lot of
events. We do a conference every other year, and I really encourage anyone who’s interested
in learning more in visiting our website which is PHAssociation.Org.
And Doctor, you see many patients who, obviously, are diagnosed with this or maybe they don’t
know what they have like Jessica is telling us right now. Advice for patients out there?
Yes. Definitely if you have a history of pulmonary embolism, to make sure you’re evaluated for
pulmonary hypertension. If you have been diagnosed with pulmonary hypertension, to make sure
that you’ve been screened with a ventilation/perfusion, or a VQ, scan that is very sensitive for Chronic
Thromboembolic Pulmonary Hypertension. And lastly, if you finally have a diagnosis of
CTEPH, to make sure that you have the advice of an experienced group to know whether your
embolism is operable because that’s really the best way to go about helping the patient.
So, Doctor, it’s important to note that it’s a manageable and potentially curable disease.
Yes. Jessica, resources out there for patients
that maybe want more and need more to understand more?
PHAssociation.Org for sure. CTEPH.com has some patient information as well. We’ve got
printed materials that we can send you for free both in English and in Spanish. And we’re
celebrating CTEPH Awareness Day on November 17th. So there’ll be a lot of information
out there about that. Please check it out. I’m on Twitter and Facebook, and I’d love
to connect with anyone who has questions. You really want to spread the word don’t you?
Absolutely. Well then you can, let’s see, I’m going to
read it out loud. You can “Bust CTEPH”. There you go. I like that.
Doctor, last-minute thoughts for anybody out there.
Just really inform yourself. Inform yourself and make sure you’re getting help from professionals
that are familiar with the disease. Thank you so much for your time. I do appreciate
it. And for viewers out there who would like to learn more about CTEPH, where do they go
Doctor? They can go to CTEPH.com. That’s C-T-E-P-H
dot com. Good to clarify. Thank you. And, of course,
for more information on this disease, you can visit CTEPH.com. That’s C-T-E-P-H dot
com, or our website, TheBalancingAct.com. I love my bracelet. I’m going to wear it for