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Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
an
inherited
disorder
of
the
heme
metabolic
pathway
that
is
characterized
by
accumulation
of
protoporphyrin
in
the
blood
,
erythrocytes
,
and
tissues
,
and
cutaneous
manifestations
of
photosensitivity
,
all
resulting
from
abnormalities
in
ferrochelatase
(
FECH
)
activity
due
to
mutations
in
the
FECH
gene
.
Protoporphyrin
is
excreted
by
the
liver
,
and
excess
protoporphyrin
leads
to
cholelithiasis
with
obstructive
episodes
and
chronic
liver
disease
,
finally
progressing
to
liver
cirrhosis
.
Patients
with
end-
stage
EPP
-associated
liver
disease
require
liver
transplantation
.
We
describe
here
a
31
-
year
-old
male
patient
with
EPP
who
experienced
acute
-on-
chronic
liver
failure
and
underwent
deceased-donor
liver
transplantation
.
Surgical
and
postoperative
care
included
specific
shielding
from
exposure
to
ultraviolet
radiation
to
prevent
photosensitivity
-associated
adverse
effects
.
The
patient
recovered
uneventfully
and
was
doing
well
24
months
after
transplantation
.
Future
prevention
and
treatment
of
liver
disease
are
discussed
in
detail
.