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[Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature].
[fabry disease]
Anderson-
Fabry
disease
is
an
X-
linked
lysosomal
storage
disorder
resulting
from
the
deficiency
of
the
hydrolytic
enzyme
alpha
galactosidase
A
,
with
consequent
accumulation
of
globotrioasoyl
ceramide
in
cells
and
tissues
of
the
body
,
resulting
in
a
multi-system
pathology
including
end
organ
failure
.
In
the
classical
phenotype
,
cardiac
failure
,
renal
failure
and
stroke
result
and
a
reduced
median
life
expectancy
ensues
.
The
current
causal
treatment
for
Fabry
disease
is
enzyme
replacement
therapy
(
ERT
)
.
Two
different
products
,
Replagal
(
agalsidase
alfa
)
and
Fabrazyme
(
agalsidase
beta
)
,
have
been
commercially
available
in
Europe
for
almost
10
years
and
they
are
both
indicated
for
long
-term
treatment
.
In
fact
,
clinical
trials
,
observational
studies
and
registry
data
have
provided
abundant
evidence
for
the
safety
and
efficacy
of
ERT
in
improving
symptoms
of
pain
,
gastrointestinal
disorder
,
hypohidrosis
,
left
ventricular
mass
index
,
glomerular
filtration
rate
and
quality
of
life
.
Few
data
are
available
on
either
comparison
of
the
two
treatments
or
the
clinical
course
of
the
disease
.
This
article
reviews
the
published
evidence
for
the
clinical
efficacy
of
the
two
available
enzyme
preparations
.
Diseases
Validation
Diseases presenting
"provided abundant evidence for the safety and efficacy"
symptom
fabry disease
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