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Exacerbation of erythropoietic protoporphyria by hyperthyroidism.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
hereditary
disorder
caused
by
deficiency
of
ferrochelatase
,
the
last
enzyme
in
the
heme
biosynthetic
pathway
.
The
majority
of
EPP
patients
present
with
a
clinical
symptom
of
painful
phototoxicity
.
Liver
damage
,
the
most
serious
complication
of
EPP
,
occurs
in
<
5
%
of
the
patients
.
This
report
describes
a
case
of
an
EPP
patient
who
complained
of
worsening
cutaneous
symptoms
,
nervousness
,
and
insomnia
.
Laboratory
tests
showed
highly
increased
protoporphyrin
concentration
in
erythrocytes
and
elevated
serum
transaminases
that
are
indicative
of
EPP
-related
liver
damage
.
The
subsequent
finding
of
decreased
serum
thyroid
-stimulating
hormone
(
TSH
)
and
increased
free
triiodothyronine
(
FT
3
)
and
free
thyroxine
(
FT
4
)
concentrations
,
as
well
antibodies
against
both
thyroid
peroxidase
(
TPO
)
and
TSH
receptors
,
led
to
the
diagnosis
of
Graves
'
disease
.
The
patient
received
500
MBq
of
radioiodine
(
I
(
131
)
)
.
Three
months
after
the
radioactive
iodine
therapy
,
the
thyroid
volume
was
reduced
to
30
%
of
pretherapeutic
volume
.
Although
the
patient
was
slightly
hypothyroidic
,
his
liver
enzymes
returned
to
normal
,
his
erythrocytic
protoporphyrin
concentration
dropped
fivefold
,
and
his
skin
symptoms
improved
dramatically
.
The
coexistence
of
Graves
'
disease
and
EPP
is
a
statistically
rare
event
as
,
besides
our
patient
,
there
was
one
additional
case
reported
in
the
literature
.
Although
the
exact
mechanism
whereby
Graves
'
disease
interacts
with
EPP
is
yet
to
be
explored
,
we
recommend
testing
thyroid
function
in
EPP
patients
with
liver
complication
to
exclude
hyperthyroidism
as
a
potential
cause
.
Diseases
Validation
Diseases presenting
"increased protoporphyrin concentration in erythrocytes and elevated serum"
symptom
erythropoietic protoporphyria
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