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The incidence of inherited porphyrias in Europe.
[erythropoietic protoporphyria]
Retrospective
estimates
of
the
prevalence
of
porphyrias
have
been
reported
but
there
has
been
no
large
scale
prospective
study
of
their
incidence
.
The
European
Porphyria
Network
collected
information
prospectively
over
a
3
year
period
about
the
number
of
newly
diagnosed
symptomatic
patients
with
an
inherited
porphyria
(
335
patients
from
11
countries
)
.
Prevalence
was
calculated
from
the
incidence
and
mean
disease
duration
.
The
incidence
of
hepato-cellular
carcinoma
(
HCC
)
in
acute
hepatic
porphyria
and
the
prevalence
of
patients
with
recurrent
acute
attacks
of
porphyria
were
also
investigated
.
The
incidence
of
symptomatic
acute
intermittent
porphyria
(
AIP
)
was
similar
in
all
countries
(
0
.
13
per
million
per
year
;
95
%
CI
:
0
.
10
-
0
.
14
)
except
Sweden
(
0
.
51
;
95
%
CI
:
0
.
28
-
0
.
86
)
.
The
incidence
ratio
for
symptomatic
AIP
:
variegate
porphyria
:
hereditary
coproporphyria
was
1
.
00
:
0
.
62
:
0
.
15
.
The
prevalence
of
AIP
(
5
.
4
per
million
;
95
%
CI
:
4
.
5
-
6
.
3
)
was
about
half
that
previously
reported
.
The
prevalence
of
erythropoietic
protoporphyria
(
EPP
)
was
less
uniform
between
countries
and
,
in
some
countries
,
exceeded
previous
estimates
.
Fourteen
new
cases
of
HCC
(
11
from
Sweden
)
were
reported
in
patients
with
acute
porphyria
.
Sixty
seven
patients
(
3
VP
;
64
AIP
:
53
females
,
11
males
)
with
recurrent
attacks
of
acute
porphyria
were
identified
.
The
estimated
percentage
of
patients
with
AIP
that
will
develop
recurrent
acute
attacks
was
3
-
5
%
.
In
conclusion
,
the
prevalence
of
symptomatic
acute
porphyria
may
be
decreasing
,
possibly
due
to
improved
management
,
whereas
the
prevalence
of
EPP
may
be
increasing
due
to
improved
diagnosis
and
its
greater
recognition
as
a
cause
of
photosensitivity
.
Diseases
Validation
Diseases presenting
"recurrent attacks"
symptom
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
erythropoietic protoporphyria
familial mediterranean fever
neuralgic amyotrophy
systemic capillary leak syndrome
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