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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
"oedema"
symptom
aniridia
cadasil
carcinoma of the gallbladder
child syndrome
cutaneous mastocytosis
erdheim-chester disease
erythropoietic protoporphyria
fabry disease
focal myositis
inclusion body myositis
neuralgic amyotrophy
proteus syndrome
systemic capillary leak syndrome
This symptom has already been validated