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Liver disease and erythropoietic protoporphyria: a concise review.
[erythropoietic protoporphyria]
The
porphyries
are
a
group
of
metabolic
disorders
characterized
by
deficiencies
in
the
activity
of
enzymes
involved
in
the
biosynthesis
of
heme
.
In
erythropoietic
protoporphyria
(
EPP
)
,
in
the
majority
of
cases
an
autosomal
dominant
disease
,
there
is
a
mutation
of
the
gene
that
encodes
ferrochelatase
(
FECH
)
.
FECH
deficiency
is
associated
with
increased
concentrations
of
protoporphyrin
in
erythrocytes
,
plasma
,
skin
and
liver
.
The
prevalence
of
this
inherited
disorder
oscillates
between
1
:
75
000
and
1
:
200
000
.
Clinical
manifestations
of
EPP
appear
in
early
infancy
upon
first
exposure
to
the
sun
.
Nevertheless
,
approximately
5
%
-
20
%
of
patients
with
EPP
develop
liver
manifestations
.
Retention
of
protoporphyrin
in
the
liver
is
associated
with
cholestatic
phenomena
and
oxidative
stress
that
predisposes
to
hepatobiliary
disease
of
varying
degrees
of
severity
,
such
as
cholelithiasis
,
mild
parenchymal
liver
disease
,
progressive
hepatocellular
disease
with
end-
stage
liver
disease
and
acute
liver
failure
.
Liver
damage
is
the
major
risk
in
EPP
patients
,
so
surveillance
and
frequent
clinical
and
biochemical
liver
follow-up
is
mandatory
.
The
diagnostic
approach
consists
in
detecting
increased
levels
of
protoporphyrin
,
decreased
activity
of
FECH
and
genetic
analysis
of
the
FECH
gene
.
A
variety
of
non-surgical
therapeutic
approaches
have
been
adopted
for
the
management
of
EPP
associated
with
liver
disease
,
but
none
of
these
has
been
shown
to
be
unequivocally
efficacious
.
Nevertheless
,
some
may
have
a
place
in
preparing
patients
for
liver
transplantation
.
Liver
transplantation
does
not
correct
the
constitutional
deficiency
of
FECH
.
Consequently
,
there
is
a
risk
of
recurrence
of
liver
disease
after
liver
transplantation
as
a
result
of
continuing
overproduction
of
protoporphyrin
.
Some
authors
recommend
that
bone
marrow
transplantation
should
be
considered
in
liver
allograft
recipients
to
prevent
recurrence
of
hepatic
disease
.
Diseases
Validation
Diseases presenting
"acute liver failure"
symptom
erythropoietic protoporphyria
This symptom has already been validated
