Alpha-1 Antitrypsin Deficiency – Not A Rare Disease, But Rarely Diagnosed


While it’s not a rare disease,
it’s rarely diagnosed. that’s because it
mimicks so many other diseases. We’re talking about Alpha-1
Antitrypsin deficiency also known as AAT Deficiency. it’s a genetic disorder that
increases your risk for lung disease. We
traveled to Chicago to learn more from a
renowned expert on the subject matter
but first meet a patient who was caught
totally off-guard by his diagnosis. Difficulty breathing and a, 56
year old Jay Whitmore is not a smoker
yet he was battling infections normally
associated with smoking. His
issues began in 2005 while on a hiking trip
in the Dominican Republic. Well I was
hiking with friends and my chest got very
tight I had a hard time breathing
I know that had a little congestion, I
felt like maybe I was getting sick but
I’ve never had that chest tightness and
heavy feeling before. You don’t
have your doctors around, you don’t ever
feel these symptoms, so at that moment you
come back to the states and you do what? When
I went to the physcian he diagnosed
me with bronchitis he gave me
antibiotics and then that’s when I asked for a
chest x-ray. He called me two days later the
chest x-ray came back and said I had
emphysema, Emphysema? Yes. Surprised? Totally
surprised there should be no reason why you know
at 43 that I would be diagnosed with
emphysema. Dr. Carl Hogarth a pulmonologist
at the University of Chicago says
that’s a familiar reaction for many
people especially when they have no
idea that Alpha-1 deficiency runs runs in
the family. Dr. Hogarth is an expert in
pulmonary diseases including Alpha-1
Deficiency, also known as AAT deficiency
which is a hereditary condition. Alpha-1
Deficiency is the name for a disorder
where your body is not manufacturing
enough of a specific protein. If
you take a breath right now you’re
breathing in a lot of different materials in
the air: smoke and and dust and pollens and
bacteria and viruses. Those things land
inside the lungs, your immune system takes
over fights that you don’t get sick. Alpha-1 is what shuts off all
of that destructive force and if you
don’t have enough alpha-1 around then all
of these destroying enzymes are allowed
to run free and so you can imagine that
one of the things that’s going to
happen and is a lot of excessive damage
to the lungs because you can’t regulate
your body’s response to anything
foreign coming into the lungs. If you’re
walking around with not enough
protective enzymes but plenty of
destructive enzymes that imbalance leads to
progressive damage to the lungs overtime
or an accelerated damage to the lungs so
the way that manifest is frequently COPD,
and emphysema, and an asthma, and
bronchiectasis, and bronchitis. You can
pick a term, the commonality here is
damage to the airways and damage to the
meat and substance of the lung. Alpha-1
deficiency is a genetic condition passed
from one generation to the next. You’re born with this deficiency
you inherited one abnormal gene from
mom and one abnormal gene from your
father. The reason of course this is so
relevant is that the carrier rate in the
United States’s is actually quite high
and if you think about your own
extended family tree and you realize how many
families marry into your family tree just
over two to three generations you
start to realize that there’s a good
chance that another carrier is going to
enter into your family tree somewhere. As
we mentioned earlier Alpha-1
deficiency it’s hard to diagnose because
the symptoms mimic many other
conditions people present with shortness of
breath, they’re coughing, they’re having
trouble with exercise, or and simple
exercises. You know, walking
around they may notice that they wheeze
occasionally um that’s what frequently does
happen as they’re told they have asthma,
until they have COPD or emphysema or
bronchitis. The problem is Alpha-1 manifests
as COPD, or asthma ,emphysema, something
that an average physcian sees several
times a day, every single day. And
Alpha-1 the actual disease that is buried in
the noise if you will, the disease
manifests at all ages across, all races
and ethnicities ,and presents with
multiple different obstructive type lung
diseases that frequently a physician
would prescribe an inhaler for and in fact the
only way you’re going to make this
diagnosis you know I can look at you and I
can examine you
and I can swear up and down that you
have Alpha-1 deficiency but until I do
the blood test I have no idea if I’m
correct or if i’m wrong. Jay
Whitmore was first diagnosed with lung
disease in 2004 about four years later and
still no clue that he has AAT deficiency. Jay met
with a pulmonologist and enrolled in a
clinical trial for COPD, something he read
in a waiting room changed his life
forever. And as I was sitting at the
table getting my pulmonary function
test when that finished I was reading a
magazine and the magazine there was an
article on Alpha-1 antitrypsin deficiency. I had never
heard of it, I tore out the card where you
can order a free test took the test and it
came back positive for Alpha
1-Antitrypsin Deficiency. You learned that it
was genetic did you find out more
about the family tree that would help kind
of like figure things out for you? Yes my mother was a smoker so
she has a little bit of COPD I don’t know
if it’s related to the other one but my
father is also a carrier, is asymptomatic
he didn’t have any symptoms at all. Dr. Hogarth
says there are some general recommendations on who should be
tested to rule out Alpha-1 Deficiency. The key
points for the following: Its anyone with
the diagnosis of COPD regardless of
their smoking history. It’s
anybody with the diagnosis of emphysema
regardless of their smoking history, it’s
anybody with the diagnosis of Chronic
Obstructive Asthma, clearly people who have
family members with the disorder should
be tested,
bronchiectasis, otherwise unexplained
liver disease should also be another
person who’s tested, there’s also a rare inflammatory
condition of the skin and of the blood
vessels if you have those disorders you
should be tested. You’ll notice over and over that
thing I kept saying is regardless of
smoking history, if you’ve been labeled
with one of these obstructed diagnosis
and you’re on inhalers for these
medications this is the test you need to
rule out this disorder. Would it shock
to learn that the average Alpha-1 patient
goes eight years and has to see three
separate doctors before someone orders a
simple blood test. The doctor also says that
testing for Alpha-1 deficiency is not
complex nor expensive. It can be done
with any form of a blood draw, also
think of every time you’ve been
to the doctor’s office and then they
sent you down the hall or whatever and
put the needle in your vein and tube or two
of blood, well that that’s, it’s a simple
as that. So
anytime you get your blood drawn you can
be tested for Alpha-1 we can do it even
more simple though it can actually be
tested with just a simple poke to the
finger and a few drops of blood from
your fingertips. It can also be done for free
there’s really no excuse. And Dr.
Hogarth says that for certain patients that
have a severe Alpha-1 Deficiency with
emphysema there’s a treatment available
for that as well. For the correct
patient the management of this disease
involves replacing the deficient protein. Do you
don’t make enough so what if we could
put it back into you. So once a week you receive an
injection, an infusion of the purified
protein that you’re missing so that we can
raise your levels back up, try to normalize
the levels of your Alpha-1 protein
since you don’t manufacture enough and
of course the alternative, not
treating the disease you have. How’s that an option? J Whitmore
followed his doctor’s advice and modified
his lifestyle, he actually moved
from Atlanta to Florida he says because
there’s less pollution there. How is Jay
today? I’m a
lot better. My lung function
still continues to drop
but you know I that take care of myself
i’m pretty healthy don’t let it really bother me
too much. Still active? Very
active. I ride my
bike, walk everyday, go to the gym, so yeah,
and I try to travel to do things I mean I
do have my limitations such as altitude
or smoggy cities but other than that
everything’s been going pretty good. So
there is life after solving this puzzle? There is life after solving the
puzzle. And for more information on
Alpha-1 deficiency you can visit rule it
out dot org or go to our website
thebalancingact.com. And coming
up making sure you’re covered when life
throws you those unfortunate curveballs. (music.)


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