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Alpha-1
liver
disease
can
affect
infants,
children,
and
adults.
It
can
result
in a
mild
bump
in
some
liver
enzymes
that
returns
to
normal
in a
few
weeks
or
it
can
lead
to
liver
failure
and
the
need
for
a
liver
transplant.
Just
as a
simple
blood
test
can
establish
the
diagnosis
of
Alpha-1,
liver
disease
due
to
Alpha-1
is
usually
detected
by a
simple
panel
of
blood
tests.
If
more
advanced
liver
problems
appear,
then
your
doctor
may
recommend
such
tests
as an
ultrasound,
an
abdominal
CT
scan,
or a
liver
biopsy.
A
liver
biopsy
can
evaluate
the
severity
of
the
liver
injury
and
can
help
evaluate
whether
other
liver
conditions
are
contributing
to
your
liver
problems.
Liver
biopsy
carries
with
it
an
extremely
small
but
potentially
serious
risk
of
side
effects
such
as
bleeding
and
so
it's
reserved
for
patients
with
ongoing
liver
problems.
When
a
liver
biopsy
from
an
individual
with
Alpha-1
is
examined
under
a
microscope
the
liver
cells
appear
filled
with
granules
which
are
actually
abnormal alpha-1
antitrypsin
protein
that
can't
be
cleared
from
the
liver.
These
granules
are
present
even
in
individuals
who
don't
have
Alpha-1-
related
liver
disease.
How
Does
Alpha-1
Liver
Disease
Develop?
The
causes
of
liver
disease
in
Alpha-1
are
less
well
understood
than
the
causes
of
lung
disease
in
this
condition.
Most
Alpha-1
liver
research
suggests
that
Alpha-1
liver
cell
damage
is
caused
by
misfolded
abnormal
alpha-1
antitrypsin
protein
build
up
in
each
cell's
endoplasmic
reticulum,
the
part
of
the
cell
that
manufactures
proteins.
This
misfolded
protein
gets
stuck
in
the
endoplasmic
reticulum
and
is
unable
to
move
along
a
pathway
leading
out
of
the
liver
cell
and
into the
blood.
Scientists
believe
that
this
blockage,
combined
with
other
genetic
and
environmental
factors,
leads
to
the
liver
injury
of
Alpha-1.
Still
unknown
is
why
most
people
with
Alpha-1
never
develop
significant
liver
disease!
Adult
Liver
Symptoms
Summary
Liver-affected
adults
with
Alpha-1
may
experience
some
or
all
of
the
following
symptoms.
All
symptoms
should
be
reported
to
your
doctor.
- itching
- jaundice (yellow skin and/or whites of eyes)
- esophageal hemorrhaging (vomiting up blood)
- ascites (water retention in abdomen)
- edema (water retention in ankles/feet)
- fatigue
- weight loss
- nausea, vomiting
- abdominal pain
- abnormal liver function tests
- black stool, fresh blood in the stool
- chronic nose bleeds
- water in the lungs
- various infections
- faster than normal breathing
- gastrointestinal bleeding
- depression
- confusion
- digestive problems
Children's
Liver
Symptoms
Summary
Liver-affected
children
with
Alpha-1
may
experience
some
or
all
of
the
following
symptoms.
All
symptoms
should
be
reported
to
the
child's
doctor.
- jaundice at birth
- foul-smelling stools
- enlarged spleen, abdomen
- small liver
- cirrhosis
- portal hypertension
- varices of the esophagus (swollen blood vessels in the esophagus)
- slow to gain weight
- slow eating
- vomiting, nausea
- problems nursing
- itching
- pale stools-almost white
- abnormal bile flow
- liver inflammation
- reflux
- loss of appetite
- lack of energy
- elevated liver enzymes
Treatment
Options
There
is
no
specific
treatment
for
Alpha-1
associated
liver
disease.
Clinical
care
primarily
consists
of
treating
biochemical
abnormalities
and
providing
supportive
measures,
which
address
symptoms.
Preventing
potential
complications
is
also
vital.
It
is
extremely
important
to
avoid
cigarette
smoking
and
known
liver
toxins
such
as
alcohol.
Additionally,
a
healthy
diet
is
essential.
Liver
transplantation
is
sometimes
a
necessary
life-saving
measure.
Fortunately,
studies
indicate
that
only
a
small
percentage
of
the
liver
affected
Alpha-1
community
require
liver
transplantation.
Clinical
centers
have
observed
that
a
number
of
patients
with
severe
liver
dysfunction
have
a
low
rate
of
disease
deterioration
and
are
able
to
live
a
relatively
normal
life
for
long
periods
of
time.
When
a
liver
transplant
is
performed,
the
donor
liver
makes
normal
alpha-1
antitrypsin
and
releases
it
into
the
blood,
thus,
in a
practical
sense,
the
affected
individual
no
longer
has
Alpha-1!
Living
related
donor
liver
transplantation
is
becoming
more
popular
as
understanding
and
techniques
improve.
The
usual
donor
is a
parent,
however,
a
consenting
sibling
18
years
of
age
or
older
or a
grandparent
or
other
family
member
may
be
considered.
Since
family
members
of
individuals
with
Alpha-1
liver
disease
may
well
have
one
or
two
abnormal
genes
for
Alpha-1,
living-related
donor
liver
transplantation
is
rarely
done
for
Alpha-1.
Much
research
is
currently
being
done
to
evaluate
ways
of
protecting
the
liver
from
injury
or
even
to
trick
the
liver
into
releasing
the
alpha-1
antitrypsin
protein
trapped
within
the
liver
cells.
If
successful
such
a
treatment
could
lead
to a
cure
for
Alpha-1.
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