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Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.
[erythropoietic protoporphyria]
To
investigate
the
demographic
,
clinical
,
biochemical
and
genotypic
features
of
patients
with
erythropoietic
protoporphyria
(
EPP
)
in
a
Swedish
cohort
.
Cross-sectional
questionnaire
,
biochemical
and
genetic
study
.
Sweden
.
Fifty
-
one
Swedish
individuals
known
in
2008
to
have
EPP
confirmed
by
molecular
diagnosis
.
There
were
no
exclusion
criteria
;
all
patients
were
included
in
the
demographic
and
genetic
study
.
A
total
of
92
%
participants
completed
the
questionnaire
study
and
82
%
the
biochemical
study
.
The
prevalence
of
EPP
was
1
:
180
,
000
.
Nine
novel
ferrochelatase
gene
mutations
were
found
.
The
most
commonly
reported
age
at
onset
of
symptoms
was
the
first
year
of
life
and
the
mean
age
at
diagnosis
was
22
years
.
Painful
photosensitivity
was
the
main
symptom
.
Exogenous
factors
other
than
sunlight
were
frequently
reported
to
cause
cutaneous
symptoms
.
One
in
five
patients
reported
a
positive
effect
of
beta
-carotene
therapy
.
A
marked
impact
of
EPP
on
quality
of
life
was
reported
.
Women
had
a
significantly
lower
mean
erythrocyte
protoporphyrin
concentration
than
men
.
Of
all
participants
,
84
%
had
insufficient
vitamin
D
concentrations
,
44
%
had
below
normal
serum
ferritin
or
transferrin
saturation
levels
and
red
cell
abnormalities
were
common
.
The
notably
delayed
diagnosis
suggests
the
need
for
an
increased
awareness
of
EPP
.
Disturbed
erythropoiesis
,
biochemical
signs
of
iron
deficiency
and
low
vitamin
D
levels
are
frequent
findings
in
this
disease
.
New
and
better
treatments
are
needed
as
current
treatment
options
for
symptom
amelioration
are
limited
.
Vitamin
D
supplementation
should
be
considered
.
Diseases
Validation
Diseases presenting
"biochemical signs of iron deficiency and low vitamin d levels are frequent findings in this disease"
symptom
erythropoietic protoporphyria
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