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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
"first year"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
benign recurrent intrahepatic cholestasis
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
phenylketonuria
pleomorphic liposarcoma
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
wolf-hirschhorn syndrome
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