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Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease.
[fabry disease]
Fabry
disease
(
Anderson-
Fabry
disease
)
is
one
of
the
most
common
lysosomal
storage
diseases
(
after
Gaucher
disease
)
caused
by
deficient
activity
of
the
alpha-galactosidase
A
(
alpha-
Gal
A
)
enzyme
,
which
leads
to
progressive
accumulation
of
globotriaosylceramide
in
various
cells
,
predominantly
in
endothelium
and
vascular
smooth
muscles
,
with
multisystem
clinical
manifestations
.
Estimates
of
the
incidence
range
from
one
per
40
,
000
to
60
,
000
in
males
,
and
1
:
117
,
000
in
the
general
population
.
Pain
is
usually
the
first
symptom
and
is
present
in
60
%
-
80
%
of
affected
children
,
as
well
as
gastrointestinal
disturbances
,
ophthalmologic
abnormalities
and
hearing
loss
.
Renal
failure
,
hypertrophic
cardiomyopathy
,
or
stroke
as
the
presenting
symptom
may
also
be
found
even
as
isolated
symptoms
of
the
disease
.
Life
expectancy
is
reduced
by
approximately
20
years
in
males
and
10
-
15
years
in
females
,
therefore
enzyme
replacement
therapy
should
be
introduced
in
patients
of
any
age
and
either
sex
,
who
meet
treatment
criteria
for
Anderson-
Fabry
disease
.
Diseases
Validation
Diseases presenting
"is present in 60%"
symptom
fabry disease
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