Alpha-1
Antitrypsin
Deficiency,
also
known
as
Alpha-1,
is a
disorder
passed
on
by a
person's
parents,
which
results
in
low
levels
or
no
levels
of a
protein
in
the
blood.
This
protein
is
called
Alpha-1
Antitrypsin
(AAT).
If
you
have
Alpha-1,
you
may
get
a
severe
lung
and/or
liver
disease
or
pass
the
flawed
AAT
gene
on
to
your
children.
In
people
lacking
the
AAT
protein,
the
AAT
made
in
the
liver
cannot
be
fully
released
into
the
blood.
What
are
some
important
facts
about
Alpha-1?
Alpha-1
- is a disorder of the genes that leads to low or no levels of AAT
- may cause lung disease in adults
- may cause liver damage that gets worse over time in adults, children and infants
- often goes undetected for years
- can be treated, but cannot be cured
- is easy to find through a blood test
How
is
Alpha-1
Inherited?
One-half
of
your
genes
are
passed
on
from
each
parent.
Here
is
an
example
of
what
could
happen
if
both
parents
are
carriers
of
the
gene.
*
Risks
Associated
with
Common
Genetic
Variants
Normal
(MM):
Does
not
have
the
disorder
and
does
not
carry
any
altered
genes.
Carrier
(MS):
It
is
unclear
whether
there
is a
risk
for
getting
disease
symptoms
and
does
carry
an
altered
AAT
gene
(most
studies
do
not
show
an
increased
risk
for
disease).
Alpha-1
(SZ
or
ZZ):
Moderate
(SZ)
to
severe
(ZZ)
deficiency.
Could
get
disease
and
does
carry
two
altered
AAT
genes.
Alpha-1
(SS):
It
is
unclear
whether
there
is a
risk
for
getting
disease
symptoms
but
does
carry
two
altered
AAT
genes
(most
studies
do
not
show
an
increased
risk
for
disease).
What
are
the
Signs
Suggesting
Alpha-1?
- A family history of Alpha-1, or lung or liver disease
- Symptoms
- Shortness of breath at rest or with exercise
- Wheezing
- Coughing
- Repeated lung infections
- Sputum (or phlegm) production
- History of suspected allergies and/or asthma
- Any of these medical problems:
- Chronic Obstructive Pulmonary Disease
- Emphysema
- Bronchiectasis
- Chronic Bronchitis
- Asthma
- Chronic liver disease in adults
- The skin disease panniculitis
- Unexplained liver disease in infants and children
It
is
important
to
note
that
people
with
Alpha-1
may
not
show
any
signs
of
the
disorder
for
many
years.
This
does
not
mean
that
you
will
not
have
symptoms
in
the
future.
What
is
Involved
in
Testing
for
Alpha-1?
Testing
for
Alpha-1
is
simple,
quick
and
highly
accurate.
Your
blood
sample
can
be
collected
using
a
finger
stick
method
of
blood
collection
or
by
means
of a
blood
draw.
Three
types
of
tests
may
be
conducted
on
your
blood
sample:
- Alpha-1 genotyping examines your genes and determines your genotype.
- Alpha-1 Antitrypsin PI type of phenotype test determines the trpe of AAT protein that you have.
- Alpha-1 antitrypsin level test determines the amount of AAT in your blood.
Testing
Programs
You
or
your
healthcare
provider
may
obtain
an
Alpha-1
Test
Kit
(finger
stick)
from
the
Alpha-1
Research
Registry
by
calling
toll-free
(877)
886-2383.
You
can
perform
the
test
yourself
and
submit
the
sample
directly
to
the
Registry
at
the
Medical
University
of
South
Carolina.
This
testing
screens
your
blood
for
the
most
common
genotypes.
If
more
extensive
testing
is
needed
to
determine
your
Alpha-1
level
and
your
phenotype,
your
physician
will
be
notified.
There
is
no
charge
for
the
Alpha-1
Screening
Program.
Commercial
Laboratory
Your
physician
may
decide
to
draw
blood
and
send
it
to a
commercial
laboratory
for
analysis.
The
cost
of
the
test
varies
and
must
be
paid
by
you
or
your
insurance
company.
Who
Should
Consider
Being
Tested?
If
you
have
signs
that
suggest
Alpha-1
(family
history
of
Alpha-1,
specific
symptoms
or
any
of
the
identified
medical
problems)
you
should
consider
being
tested.
There
are
ways
your
life
could
be
affected
by
learning
information
that
may
be
discovered
by
genetic
testing.
Potential
Benefits
- Allow you to increase your knowledge of Alpha-1 and awareness of your personal risk
- Provide information for future healthcare decisions
- Allow you to take steps that may slow the progression of Alpha-1 Association Assist you and your family in making decisions about work, lifestyle, and having children
Potential
Harms
- May be personally unsettling
- May affect your ability to get health and life insurance
- May influence willingness of employers to hire you
- May create stress in your family
- May increase your personal healthcare costs
These
tests
are
up
to
you.
You
should
discuss
health
and
non-health
risks
with
your
healthcare
provider,
family,
and
others
close
to
you.
You
need
to
understand
the
potential
benefits
and
harms
very
well
prior
to
testing.
This
is
called
informed
consent.
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