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Bone mineral density and vitamin D levels in erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
rare
disease
with
painful
cutaneous
photosensitivity
,
in
which
patients
are
recommended
to
avoid
sun
exposure
,
and
wear
sunscreen
and
adequate
clothing
.
Our
aim
was
to
study
bone
mineral
density
(
BMD
)
and
other
mineral
parameters
,
including
serum
25
(
OH
)
D
levels
,
to
evaluate
the
impact
of
these
measures
in
the
follow-up
of
EPP
patients
.
A
cross-sectional
study
of
ten
EPP
patients
(
median
age
25
;
range
22
-
55
,
four
males
and
six
females
)
,
was
performed
evaluating
clinical
features
,
biochemical
values
(
bone
markers
and
serum
25
hydroxyvitamin
D
)
,
and
BMD
.
Median
serum
25
(
OH
)
D
level
was
19
.
65
ng
/
ml
[
17
.
50
;
24
.
80
]
.
Four
patients
had
25
(
OH
)
D
in
insufficiency
range
(
20
-
30
ng
/
ml
)
and
five
patients
in
the
deficiency
range
(
<
20
ng
/
ml
)
.
Lumbar
T
-
score
median
levels
were
in
the
osteopenia
range
in
both
females
(
-
1
.
50
[
-
2
.
30
;
-
1
.
0
]
)
and
males
(
-
1
.
90
[
-
2
.
40
;
-
0
.
70
]
)
.
Also
,
in
the
female
group
median
femoral
neck
T
-
score
were
in
the
osteopenia
range
(
-
1
.
20
[
-
1
.
60
;
-
0
.
60
]
)
.
This
is
the
first
study
reporting
low
BMD
in
EPP
patients
.
Osteoporosis
,
osteopenia
,
and
vitamin
D
deficiency
are
frequent
findings
in
EPP
patients
.
The
contribution
of
sunlight
avoidance
measures
to
these
results
remains
to
be
clarified
.
Serum
levels
of
protoporphyrins
were
not
related
to
these
alterations
and
other
factors
should
be
investigated
.
We
suggest
that
the
monitoring
of
serum
vitamin
D
levels
in
EPP
patients
should
be
mandatory
,
as
well
as
vitamin
D
and
calcium
supplementation
.
Diseases
Validation
Diseases presenting
"bone markers"
symptom
erythropoietic protoporphyria
familial mediterranean fever
phenylketonuria
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