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Maternal and fetal outcome in Swedish women with erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Painful
photosensitivity
is
characteristic
of
erythropoietic
protoporphyria
(
EPP
)
.
In
women
,
symptoms
may
be
affected
by
menstrual
cycle
and
pregnancy
but
very
little
is
known
about
maternal
and
fetal
outcome
.
To
investigate
the
impact
of
menstruation
,
pregnancy
and
breast
-feeding
on
photosensitivity
and
possible
effects
of
EPP
on
maternal
,
fetal
and
neonatal
outcome
.
Retrospective
study
screening
all
20
Swedish
women
alive
and
older
than
18
years
diagnosed
with
EPP
with
a
total
of
33
deliveries
.
Data
were
retrieved
for
19
women
and
32
deliveries
in
medical
records
and
completed
by
a
questionnaire
sent
to
the
patients
.
Photosensitivity
worsened
in
five
of
19
(
26
%
)
women
around
menstruation
whereas
amelioration
was
reported
in
17
of
32
(
53
%
)
pregnancies
and
during
11
of
32
(
34
%
)
breast
-feeding
periods
.
Fertility
rate
was
normal
and
there
were
no
maternal
or
fetal
complications
apart
from
minor
arterial
hypertension
in
one
woman
.
The
study
confirms
changes
in
photosensitivity
during
menstruation
and
pregnancy
.
Amelioration
during
breast
-feeding
is
a
new
finding
.
Pregnancy
appears
safe
without
increased
risks
of
pregnancy
complications
or
adverse
effects
on
fetal
or
neonatal
health
.
Diseases
Validation
Diseases presenting
"hypertension"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
cadasil
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kallmann syndrome
kindler syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
pendred syndrome
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
sneddon syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated