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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 mineral density"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
dentinogenesis imperfecta
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
kallmann syndrome
lamellar ichthyosis
phenylketonuria
primary hyperoxaluria type 1
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