we were able to bolster your education and
really be able to integrate things.
Let’s continue. So, signs and symptoms of
emphysema. We have pulmonary function test.
Well we know its’ less than 80, we’re
at COPD. Chest X-ray hyperinflation. Hyperlucency,
what does that mean to you? Increased black.
Normally on your chest X-ray you should find
a little bit of vasculature, a little bit
of opacity is good for you, too much is pathology.
Tell me about this hyperlucency both sides
or unilateral? Good, both sides. Unilateral
you think more on the lines of pneumothorax,
maybe spontaneous. What else may happen?
Well, if there is damage to your lung, eventually
at some point because of that increased pulmonary
resistance you’re going to have right-sided
damage and what’s the first physiologic
adaptation that the right ventricle is going
to undergo? It’s called right ventricular
Now, let’s go and try to diagnose our patient.
First point, now if you didn’t hear or if
you’re a little lost with what I was referring
to with that oxygen dissociation and carbon
dioxide dissociation curve then
this won’t make much sense
or maybe perhaps you would just breeze through
it and you would have memorized it, don’t do that.
Hypoxemia with or without hypercapnia. There
you go. So, is it possible that you might
have a patient with emphysema in which he
or she has hypoxemia but doesn’t have hypercapnia?
Sure, why? Well you go back to that point
about hyperventilation in pathology such as
emphysema in which you will never compensate
for the hypoxemia but you might be able
to compensate for the increase in carbon dioxide
and blow some off. So therefore, there might
be normocapnia or perhaps hypocapnia, pretty
big deal actually.
What else might you be thinking about in all
cases, especially if your Caucasian patient?
But, it doesn’t matter, just in general.
When you have emphysema, you just want to
make sure that you check for alpha-1 antitrypsin.
AAT stands for alpha-1 antitrypsin evaluation.
Just to make sure. What’s the name of that
normal gene, the one that you want to know?
PI, for every "z" that you pick up, you have
less or deficient amounts of alpha-1 antitrypsin.
You pick up two "z" I’m just being
funny here, okay? At times, have to be
careful because I say something if I rushed
through it like for example you might want
to think of it as being “pizzing out”
your alpha-1 antitrypsin but by saying that
it doesn’t mean that you’re going to find
alpha-1 antitrypsin in the urine, is that
clear? So, if you get it, you get it. If you
don’t then please somehow just understand
the concept of homozygous, you’re not making
any, period. Okay, now what do you find in
your hepatocyte though? You might find a
protein globule. Protein globule. Where?
In hepatocyte endoplasmic reticulum.
Continue. Alright, now, let’s quickly walk
through the dynamics of alpha-1 antitrypsin,
please. We know it’s panacinar emphysema
and what is this? It’s an enzyme synthesized
in the liver that what does it do? It inhibits
our proteolytic enzymes that’s coming from
your neutrophil, example elastase we call that
protease. Next, it’s an inherited in autosomal
recessive fashion. So therefore, homozygous
means picking up two "z" and this is huge
As it is your patient with emphysema is young,
45 is young, trust me. I’m getting really
close to it. But, let’s say that
I was a smoker and had alpha-1 antitrypsin
deficiency then this patient is going to have
a hastened pathogenesis or a hastened type
of journey and by that maybe your patient
has emphysema at the age of 35. That’s
unfortunate. Not only would the patient
have such an issue but most likely has issues
within the liver as well.
Diagnosis. Well, absence of alpha-1 globulin
on protein electrophoresis can measure a, well,
alpha-1 antitrypsin level, correct? So, on
protein electrophoresis if you don’t even
find the alpha-1 globulin please understand
your patient does not have alpha-1 antitrypsin,
is that clear? You’re doing a protein electrophoresis,
you’re trying to identify the protein of
your alpha-1 antitrypsin but it isn’t there.
Basal emphysema on chest X-ray as opposed to
apical in typical COPD, okay? So, once again,
when you talk about COPD and you think about
emphysema and smokers’ interlobular, where
is their damage? More likely apex, in the
middle lobe. Perhaps when you start finding
issues within the basal portion of your lung
you should be suspecting much more so alpha-1
antitrypsin. Now, you need to keep this in
mind current day practice you know you're doctor
fine, you want to administer every medication
that you want but you cannot
because of, perhaps cost. Extremely expensive.
So, please. You go through the diagnosis portion
of alpha-1 antitrypsin deficiency. Why is
this important? Extremely common in your Caucasian
population, one of the major genetic mutations,
and make sure that you confirm
your diagnosis before you think about giving
recombinant alpha-1 antitrypsin because it
is major bucks.
Management, obviously please try to cut down
the smoking, oxygen therapy, lung volume reduction
it’s hyperinflation isn’t it? Straightforward.