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Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
[erythropoietic protoporphyria]
Late
-onset
erythropoietic
protoporphyria
(
EPP
)
is
rare
,
and
it
is
usually
associated
with
an
acquired
somatic
mutation
of
the
ferrochelatase
gene
secondary
to
hematological
malignancy
such
as
myelodysplastic
syndrome
or
myeloproliferative
disorder
.
In
0
.
5
-
1
%
of
patients
with
EPP
,
deposition
of
protoporphyrin
in
the
liver
leads
to
progressive
liver
insufficiency
.
Herein
,
we
report
the
case
of
a
67
-
year
-old
female
who
developed
EPP
with
typical
photosensitivity
and
hemolytic
anemia
.
Six
months
later
,
she
was
admitted
with
acute
liver
damage
with
a
rapidly
progressing
course
,
and
developed
liver
insufficiency
.
She
recovered
from
the
liver
insufficiency
after
undergoing
plasmapheresis
and
red
blood
cell
exchange
transfusion
.
A
bone
marrow
examination
revealed
normal
features
;
however
,
a
cytogenetic
analysis
identified
an
abnormal
clone
of
cells
with
a
translocation
between
chromosomes
13
q
12
and
18
q
21
.
1
.
This
is
the
first
report
of
a
patient
who
recovered
from
liver
insufficiency
.
The
results
of
this
report
suggest
that
plasmapheresis
and
red
blood
cell
exchange
transfusion
are
effective
for
treating
liver
insufficiency
in
patients
with
late-onset
EPP
.
Diseases
Validation
Diseases presenting
"bone marrow examination"
symptom
cohen syndrome
cutaneous mastocytosis
erythropoietic protoporphyria
oculocutaneous albinism
sneddon syndrome
waldenström macroglobulinemia
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