Although
Alpha-1
is
one
of
the
most
common
genetic
disorders
in
the
world,
it
is
often
misdiagnosed.
Many
times
patients
are
told
they
have
asthma,
bronchitis,
symptoms
related
to
stress,
emphysema
caused
by
smoking,
or
simply
chronic
obstructive
pulmonary
disease
of
unknown
cause.
The
most
common
indicators
of
Alpha-1
include
shortness
of
breath,
a
chronic
cough,
and
abnormal
liver
test
results.
If
you
have
any
of
these
symptoms
there
is a
simple
blood
test
that
can
detect
alpha-1
antitrypsin
levels.
This
test
is
also
recommended
if
you
have
relatives,
especially
siblings,
who
have
been
diagnosed
with
alpha-1,
or
if
there
is a
family
history
of
early
emphysema,
with
or
without
smoking.
The
laboratory
test
measures
alpha-1
antitrypsin
levels
in
the
blood,
which
are
reported
using
two
units
of
measurement:
milligrams
per
100
ml
(mg%)
and
micromoles
per
liter
(µM/L).
Both
measurements
provide
the
same
basic
information
on
how
much
alpha-1
antitrypsin
is
in
the
blood.
People
with
two
healthy
copies
of
the
alpha-1
gene
produce
the
most
alpha-1
antitrypsin,
and
people
with
no
copies
of
the
gene
at
all
produce
the
least.
In
addition,
environmental
factors
can
affect
how
much
alpha-1
antitrypsin
is
in
the
blood.
An
individual's
genetic
makeup
(genotype)
combines
with
environmental
factors
to
determine
their
phenotype.
Here
are
the
more
common
phenotypes
and
their
corresponding
blood
alpha-1
levels.
Phenotype
|
µM/L |
mg% |
MM (two normal copies)
|
20-53 |
150-350 |
MZ (one normal copy, one deficient copy)
|
12-28 |
90-210 |
SS (two marginally deficient copies)
|
13-27 |
100-210 |
SZ (one deficient copy, one marginally deficient copy)
|
10-16 |
75-120 |
ZZ
(two deficient copies) |
2.5-7 |
20-45 |
NULL (two nonfunctional copies)
|
0 |
0 |
Alpha-1
levels
of
11
µM/L
(80
mg%)
or
less
put
you
at
greatest
risk
of
developing
alpha-1
related
emphysema.
Smokers
with
intermediate
deficiency
levels
(80
-
160
mg%)
are
also
at
increased
risk
of
lung
disease.
In
the
table
above,
M
refers
to
the
normal
gene.
Over
75
combinations
of
gene
variations
(alleles)
have
been
identified,
some
of
which
can
cause
Alpha-1.
The
S, Z
and
Null
genes
are
the
most
common
ones
that
cause
alpha-1
deficiencies.
ZZ
is
the
most
common
allele
that
causes
lung
disease.
The
Null
gene
is
one
that
produces
no
detectable
levels
of
alpha-1.
Alphas
with
the
Null-Null
phenotype
are
at
the
greatest
risk
of
developing
emphysema,
yet
none
have
suffered
liver
damage
as a
result
of
their
Alpha-1.
|
