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The porphyrias: advances in diagnosis and treatment.
[erythropoietic protoporphyria]
The
inborn
errors
of
heme
biosynthesis
,
the
porphyrias
,
are
8
genetically
distinct
metabolic
disorders
that
can
be
classified
as
"
acute
hepatic
,
"
"
hepatic
cutaneous
,
"
and
"
erythropoietic
cutaneous
"
diseases
.
Recent
advances
in
understanding
their
pathogenesis
and
molecular
genetic
heterogeneity
have
led
to
improved
diagnosis
and
treatment
.
These
advances
include
DNA-based
diagnoses
for
all
the
porphyrias
,
new
understanding
of
the
pathogenesis
of
the
acute
hepatic
porphyrias
,
identification
of
the
iron
overload-induced
inhibitor
of
hepatic
uroporphyrin
decarboxylase
activity
that
causes
the
most
common
porphyria
,
porphyria
cutanea
tarda
,
the
identification
of
an
X-
linked
form
of
erythropoietic
protoporphyria
due
to
gain-of-function
mutations
in
erythroid-
specific
5
-
aminolevulinate
synthase
(
ALAS
2
)
,
and
new
and
experimental
treatments
for
the
erythropoietic
porphyrias
.
Knowledge
of
these
advances
is
relevant
for
hematologists
because
they
administer
the
hematin
infusions
to
treat
the
acute
attacks
in
patients
with
the
acute
hepatic
porphyrias
,
perform
the
chronic
phlebotomies
to
reduce
the
iron
overload
and
clear
the
dermatologic
lesions
in
porphyria
cutanea
tarda
,
and
diagnose
and
treat
the
erythropoietic
porphyrias
,
including
chronic
erythrocyte
transfusions
,
bone
marrow
or
hematopoietic
stem
cell
transplants
,
and
experimental
pharmacologic
chaperone
and
stem
cell
gene
therapies
for
congenital
erythropoietic
protoporphyria
.
These
developments
are
reviewed
to
update
hematologists
on
the
latest
advances
in
these
diverse
disorders
.
Diseases
Validation
Diseases presenting
"chronic phlebotomies"
symptom
erythropoietic protoporphyria
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