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Plasma and red cell exchange transfusions for erythropoietic protoporphyria: a case report and review of the literature.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
rare
and
usually
autosomal
dominant
disorder
characterized
by
ferrochelatase
deficiency
and
accumulation
of
protoporphyrin
in
red
blood
cells
(
RBCs
)
,
skin
,
and
liver
.
A
small
minority
of
patients
develop
severe
liver
dysfunction
for
which
optimum
treatment
is
lacking
.
Therapeutic
plasma
exchange
(
TPE
)
and
RBC
exchange
(
RCE
)
have
been
anecdotally
reported
to
benefit
patients
with
EPP
and
liver
failure
.
A
50
-
year
-old
female
with
EPP
developed
severe
liver
dysfunction
after
knee
replacement
surgery
and
high
-dose
acetaminophen
use
.
Liver
biopsy
showed
cholestatic
liver
injury
without
fibrosis
.
A
total
of
20
TPE
procedures
,
six
RCE
procedures
,
and
then
14
more
TPE
procedures
were
performed
as
adjunctive
therapy
with
the
purpose
of
preventing
progression
to
end-
stage
liver
failure
.
After
initial
TPE
,
the
plasma
and
RBC
protoporphyrin
levels
decreased
from
834
.
9
to
180
.
4
μg
/
dL
(
normal
,
≤
1
μg
/
dL
)
,
and
from
3
,
905
to
2
,
879
μg
/
dL
(
normal
,
≤
80
μg
/
dL
)
,
respectively
,
without
liver
function
improvement
.
RCE
decreased
RBC
protoporphyrin
levels
from
2
,
879
to
1
,
225
μg
/
dL
but
plasma
protoporphyrin
increased
from
180
.
4
to
1
,
044
.
1
μg
/
dL
,
and
liver
function
failed
to
improve
.
Additional
TPE
again
stabilized
plasma
protoporphyrin
and
improved
RBC
protoporphyrin
levels
but
the
patient
ultimately
died
owing
to
end-
stage
liver
disease
complications
.
This
case
illustrates
that
TPE
and
RCE
may
improve
the
plasma
and
RBC
biochemical
markers
of
EPP
activity
but
liver
function
abnormalities
may
persist
and
patients
may
still
progress
to
liver
failure
either
because
of
irreversible
liver
injury
or
independent
pathobiological
factors
unrelated
to
EPP
-induced
hepatotoxicity
.
Diseases
Validation
Diseases presenting
"liver function abnormalities"
symptom
erythropoietic protoporphyria
neonatal adrenoleukodystrophy
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