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Erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
an
inherited
disorder
of
the
haem
metabolic
pathway
characterised
by
accumulation
of
protoporphyrin
in
blood
,
erythrocytes
and
tissues
,
and
cutaneous
manifestations
of
photosensitivity
.
EPP
has
been
reported
worldwide
,
with
prevalence
between
1
:
75
,
000
and
1
:
200
,
000
.
It
usually
manifests
in
early
infancy
upon
the
first
sun
exposures
.
EPP
is
characterised
by
cutaneous
manifestations
of
acute
painful
photosensitivity
with
erythema
and
oedema
,
sometimes
with
petechiae
,
together
with
stinging
and
burning
sensations
upon
exposure
to
sunlight
,
without
blisters
.
These
episodes
have
a
variable
severity
depending
on
the
exposure
duration
and
may
result
in
chronic
permanent
lesions
on
exposed
skin
.
As
protoporphyrin
is
a
lipophilic
molecule
that
is
excreted
by
the
liver
,
EPP
patients
are
at
risk
of
cholelithiasis
with
obstructive
episodes
,
and
chronic
liver
disease
that
might
evolve
to
rapid
acute
liver
failure
.
In
most
patients
,
EPP
results
from
a
partial
deficiency
of
the
last
enzyme
of
the
haem
biosynthetic
pathway
,
ferrochelatase
,
EC
4
.
99
.
1
.
1
/
FECH
(
encoded
by
the
FECH
gene
)
.
EPP
appears
to
be
inherited
as
an
autosomal
dominant
disease
,
the
clinical
expression
of
which
is
modulated
by
the
presence
of
the
hypomorphic
FECH
IVS
3
-
48
C
allele
trans
,
but
recessive
inheritance
with
two
mutated
FECH
alleles
has
also
been
described
.
In
about
2
%
of
patients
,
overt
disease
was
recently
shown
to
be
caused
by
gain-of-function
mutations
in
the
erythroid-
specific
aminolevulinic
acid
synthase
2
(
ALAS
2
/
ALAS
,
EC
2
.
3
.
1
.
27
)
gene
and
named
X-
linked
dominant
protoporphyria
.
Diagnosis
is
established
by
finding
increased
levels
of
protoporphyrin
in
plasma
and
red
blood
cells
,
and
detection
of
a
plasma
fluorescence
peak
at
634
nm
.
Investigations
for
hepatic
involvement
,
ferrochelatase
activity
level
,
genetic
analysis
(
FECH
mutations
,
presence
of
the
hypomorphic
FECH
IVS
3
-
48
C
allele
trans
and
ALAS
2
mutations
)
and
family
studies
are
advisable
.
Differential
diagnosis
includes
phototoxic
drug
reactions
,
hydroa
vacciniforme
,
solar
urticaria
,
contact
dermatitis
,
angio-
oedema
and
,
in
some
cases
,
other
types
of
porphyria
.
Management
includes
avoidance
of
exposure
to
light
,
reduction
of
protoporphyrin
levels
and
prevention
of
progression
of
possible
liver
disease
to
liver
failure
.
As
the
major
risk
in
EPP
patients
is
liver
disease
,
a
regular
follow-up
of
hepatic
involvement
is
essential
.
Sequential
hepatic
and
bone
marrow
transplantation
should
be
considered
as
a
suitable
treatment
for
most
severe
cases
of
EPP
with
hepatic
involvement
.
EPP
is
a
lifelong
disorder
whose
prognosis
depends
on
the
evolution
of
the
hepatic
disease
.
However
,
photosensitivity
may
have
a
significant
impact
on
quality
of
life
of
EPP
patients
.
Diseases
Validation
Diseases presenting
"severe cases"
symptom
coats disease
congenital diaphragmatic hernia
dentin dysplasia
dentinogenesis imperfecta
erythropoietic protoporphyria
hereditary cerebral hemorrhage with amyloidosis
hydrocephalus with stenosis of the aqueduct of sylvius
locked-in syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
neuralgic amyotrophy
proteus syndrome
scrub typhus
trochlear dysplasia
typhoid
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