and then this flows to the lungs and protects our lungs from what would be damage from this neutrophil elastase.
presentation of respiratory disease that
happens a little bit later in childhood
and let’s focus now on
So, in a normal person, we
make neutrophil elastase.
This is a substrate that is secreted
by neutrophils to fight infections.
We protect our own bodies from these
elastase with alpha-1-antitrypsin.
In patients who are normal,
they are making alpha-1-antitrypsin
in the liver as you can see here,
and then this flows to the
lungs and protects our lungs
from what would be damage from
this neutrophil elastase.
So the alpha-1-antitrypsin is protecting
our lungs against the neutrophil elastase,
which we’re using to
fight off infections.
In a patient with
the problem is they can’t get the
alpha-1-antitrypsin out of the liver,
it’s trapped in there, and that accrual
is actually causing liver damage.
Furthermore, because that
can’t get out of the liver,
the lungs now lack the protection and the
neutrophil elastase is causing lung damage.
This disease affects about
one in 5,000 people.
It’s more common in Caucasians,
and the liver disease
often starts in childhood
with prolonged jaundice
and no clear cause.
Lung disease typically starts in
adolescence or young adulthood.
If an adolescent is a smoker, they will
dramatically worsen their lung outcomes
and the risk of hepatocellular cancer
later in life is very real.
So how do we manage
We worry about their
lungs and their livers.
We provide supportive care for
their absorption of bile salts
through liver dysfunction, they might
have a problem and we take care of that.
In addition, we manage their
lung disease accordingly.
but studies haven’t really gone forward
yet in terms of how effective this is.
So this is a developing area and we may
see future regimens involved in the future
with intravenous alpha-1-antitrypsin,
but that’s a relatively new thing.