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Vitamin D deficiency in patients with erythropoietic protoporphyria.
[erythropoietic protoporphyria]
The
main
symptom
of
patients
with
erythropoietic
protoporphyria
(
EPP
)
is
painful
photosensitivity
,
starting
within
minutes
of
sun
exposure
and
leading
to
sun-avoidance
.
As
80
-
100
%
of
vitamin
D
is
synthesized
under
the
influence
of
sunlight
,
we
investigated
whether
the
avoidance
of
sunlight
exposure
in
the
Dutch
EPP
patient
population
causes
vitamin
D
deficiency
.
Furthermore
,
we
studied
the
relation
between
vitamin
D
levels
,
total
erythrocyte
protoporphyrin
and
quality
of
life
.
In
a
cross-sectional
study
of
48
Dutch
EPP
patients
(
mean
age
41
.
4
years
;
range
16
-
77
;
23
male
,
25
female
)
,
we
assessed
serum
25
-
hydroxyvitamin
D
(
25
(
OH
)
D
)
levels
between
June
and
November
2007
,
as
well
as
total
erythrocyte
protoporphyrin
(
TEP
)
levels
and
Dermatology
Life
Quality
Index
(
DLQI
)
scores
.
Mean
serum
25
(
OH
)
D
was
66
nmol
/
L
(
range
18
-
140
,
quartiles
36
,
87
)
.
Twenty
-
two
patients
(
46
%
;
15
male
,
7
female
)
were
vitamin
D
deficient
.
There
was
a
significant
difference
(
p
=
0
.
029
)
in
mean
serum
25
(
OH
)
D
between
female
(
mean
75
nmol
/
L
,
range
18
-
140
)
and
male
patients
(
mean
55
nmol
/
L
,
range
18
-
115
)
.
The
level
of
serum
25
(
OH
)
D
showed
a
negative
correlation
with
total
erythrocyte
protoporphyrin
(
TEP
)
(
Pearson
rank
correlation
(
r
(
p
)
)
=
-
0
.
337
;
p
=
0
.
034
)
.
Serum
25
(
OH
)
D
was
inversely
associated
with
scores
of
the
Dermatology
Life
Quality
Index
(
DLQI
)
(
Spearman
's
rho
correlation
(
r
(
s
)
)
=
-
0
.
486
;
p
=
0
.
001
)
.
The
prevalence
of
vitamin
D
deficiency
is
high
in
the
Dutch
EPP
population
,
especially
in
male
patients
,
and
correlates
with
the
severity
of
EPP
.
Screening
for
and
treatment
of
vitamin
D
deficiency
should
therefore
be
implemented
in
the
care
of
these
patients
.
Diseases
Validation
Diseases presenting
"total erythrocyte protoporphyrin"
symptom
erythropoietic protoporphyria
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