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Alpha-1
antitrypsin
(Alpha-1)
is a
protein
that
is
produced
mostly
in
the
liver.
Its
primary
function
is
to
protect
the
lungs
from
neutrophil
elastase.
Neutrophil
elastase
is
an
enzyme
that
normally
serves
a
useful
purpose
in
lung
tissue-it
digests
damaged
or
aging
cells
and
bacteria
to
promote
healing.
However,
if
left
unchecked,
it
will
also
attack
healthy
lung
tissue.
Alpha-1
antitrypsin,
in
sufficient
amounts,
will
trap
and
destroy
neutrophil
elastase
before
it
has
a
chance
to
begin
damaging the
delicate
lung
tissue.
Consequently,
if
an
individual
doesn't
have
enough
alpha-1
antitrypsin,
the
enzyme
goes
unchecked
and
attacks
the
lung.
Most
people
have
two
normal
copies
of
the
alpha-1
antitrypsin
gene.
People
with
Alpha-1
may
have
one
normal
copy
and
one
damaged
copy,
or
two
damaged
copies.
Most
Alphas
with
at
least
one
normal
gene
can
produce
enough
alpha-1
antitrypsin
to
stay
healthy,
especially
if
they
don't
smoke.
However,
people
with
two
damaged
copies
of
the
gene
can't
produce
enough
alpha-1
antitrypsin,
which
can
cause
several
conditions.
They
are
often
diagnosed
with
emphysema
as
their
primary
disease.
Other
common
diagnoses
include
COPD
(chronic
obstructive
pulmonary
disease),
asthma,
chronic
bronchitis,
and
bronchiectasis.
Alphas
are
usually
quite
susceptible
to
lung
infections.
In
the
Alpha-1
patient,
any
of
these
conditions
can
cause
further
damage
if
they
aren't
treated
right
away.
Another
disease
that
some
Alpha
patients
develop
is
cirrhosis
of
the
liver.
This
scarring
of
healthy
liver
tissue
affects
Alpha-1
infants,
as
well
as
12%
to
15%
of
adult
Alphas.
Unfortunately,
there
is
no
cure
for
cirrhosis
of
the
liver,
regardless
of
its
cause.
Cirrhosis
can
be
managed
as a
chronic
condition
if
caught
early
and
protective
steps
are
taken.
Still,
a
liver
transplant
is
currently
the
only
option
available
for
advanced
disease.
More
rarely,
Alphas
may
also
have
a
disease
known
as
panniculitis.
Panniculitis
is
an
inflammation
in
the
fatty
tissue
under
the
skin.
It
can
occur
in
both
children
and
adults.
Alphas
and
physicians
regularly
speak
of a
patient's
"primary
disease."
This
means
the
principal
way
the
deficiency
is
manifested
in a
given
patient,
whether
in
the
lungs,
the
liver,
or
the
skin.
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