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Porphyrias in Norway.
[erythropoietic protoporphyria]
Porphyria
is
an
umbrella
term
for
a
group
of
largely
hereditary
diseases
that
are
due
to
defective
haem
synthesis
.
The
diseases
have
a
varied
and
partly
overlapping
range
of
symptoms
and
presentations
.
The
commonest
forms
of
porphyria
are
porphyria
cutanea
tarda
,
acute
intermittent
porphyria
and
erythropoietic
protoporphyria
.
The
purpose
of
this
study
is
to
provide
an
overview
of
the
prevalence
and
pathological
manifestations
of
porphyrias
in
Norway
.
Information
on
all
patients
registered
with
the
Norwegian
Porphyria
Centre
(
NAPOS
)
up
to
2012
was
used
to
estimate
the
prevalence
and
incidence
of
porphyrias
in
Norway
.
Figures
on
symptoms
,
precipitating
factors
and
follow-up
routines
were
obtained
from
the
Norwegian
Porphyria
Registry
,
which
includes
70
%
of
Norwegians
registered
with
NAPOS
as
having
porphyria
.
The
prevalence
of
porphyria
cutanea
tarda
was
approximately
10
:
100
,
000
and
that
of
acute
intermittent
porphyria
approximately
4
:
100
,
000
.
The
total
incidence
of
all
porphyrias
was
approximately
0
.
5
-
1
:
100
,
000
per
year
.
Diagnostic
delay
,
i
.
e
.
the
time
passing
between
the
onset
of
symptoms
and
diagnosis
,
varied
from
1
-
17
years
depending
on
the
type
of
porphyria
.
There
was
wide
variation
in
the
frequency
with
which
patients
with
the
various
types
of
porphyria
went
for
medical
check-ups
.
The
prevalence
of
acute
intermittent
porphyria
and
porphyria
cutanea
tarda
appears
to
be
higher
in
Norway
than
in
most
other
countries
.
Data
from
the
Norwegian
Porphyria
Registry
makes
it
possible
to
demonstrate
differences
in
treatment
and
follow-up
of
porphyria
patients
and
may
be
used
to
initiate
necessary
measures
.
Diseases
Validation
Diseases presenting
"acute intermittent porphyria"
symptom
erythropoietic protoporphyria
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