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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
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated
