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Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
rare
inherited
disorder
of
heme
biosynthesis
mostly
caused
by
a
deficient
activity
of
the
enzyme
ferrochelatase
(
FECH
)
,
and
consequent
accumulation
of
protoporphyrin
(
PP
)
in
various
tissues
.
Clinical
manifestations
include
a
childhood
onset
,
cutaneous
photosensitivity
and
,
sometimes
,
hepatobiliary
disease
.
We
report
a
16
-
year
-old
male
with
EPP
characterized
by
acute
episodes
of
painful
photosensitivity
since
early
infancy
,
permanent
changes
in
the
photoexposed
skin
,
microcytic
anemia
,
thrombocytopenia
,
and
mild
hepatic
dysfunction
.
His
18
-
year
-old
sister
presented
less
acute
symptoms
with
no
chronic
changes
.
Lesional
biopsy
disclosed
perivascular
deposition
of
PAS
positive
hyaline
material
.
Rimington
-
Cripps
test
was
positive
and
PP
erythrocyte
levels
were
>
9
,
000
μg
/
L
(
N
<
1
,
600
)
,
but
normal
in
their
parents
and
younger
brother
.
Genetic
studies
in
both
patients
and
their
mother
revealed
heterozygosity
for
a
novel
mutation
(
c
.
1052
delA
)
in
FECH
gene
of
both
children
,
and
heterozygosity
for
the
hypomorphic
allele
IVS
3
-
48
T
>
C
in
all
of
them
.
This
confirms
the
"
pseudodominant
"
inheritance
pattern
usually
observed
,
explained
by
the
combined
presence
of
a
disabling
FECH
mutation
and
a
common
intronic
polymorphism
affecting
the
counterpart
allele
(
IVS
3
-
48
T
>
C
)
.
Phenotypic
heterogeneity
for
this
genotype
explains
the
divergent
clinical
presentation
.
This
is
the
first
description
of
a
Portuguese
family
with
EPP
characterized
at
the
molecular
level
.
Diseases
Validation
Diseases presenting
"a common intronic polymorphism affecting the counterpart allele"
symptom
erythropoietic protoporphyria
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