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[Anti-phosphatidylethanolamine antibodies in patients with Sneddon's syndrome].
[sneddon syndrome]
Anti-phosphatidylethanolamine
antibodies
(
aPE
)
belong
to
the
group
of
anti-phospholipid
antibodies
(
aPL
)
and
are
directed
against
neutral
phospholipid
,
connected
with
co
-
factor
protein
,
while
cardiolipin
antibodies
(
aKL
)
are
directed
against
negative
phospholipid
.
The
paper
presents
a
study
of
prevalence
and
clinical
significance
of
IgG
aPE
in
28
patients
(
22
women
and
6
men
,
mean
age
47
.
6
+
/
-
11
.
6
years
)
with
Sneddon
's
syndrome
(
SS
)
,
which
consists
in
cerebrovascular
disturbances
and
extensive
livedo
reticularis
.
IgG
aPE
were
detected
by
immune-enzyme
assay
.
The
upper
normal
limit
,
calculated
as
mean
+
3
SD
after
studying
19
healthy
donors
,
was
0
.
303
optic
density
units
.
aPE
were
found
in
15
(
54
%
)
,
aKL
and
/
or
lupus
anticoagulant
(
LA
)
-
-
in
6
(
21
%
)
patients
with
SS
.
aPE
were
found
in
10
(
46
%
)
out
of
22
aKL-
and
LA
-negative
patients
.
Among
the
aPE-
positive
patients
there
was
a
higher
incidence
of
cortic
dementia
(
53
%
vs
.
8
%
,
p
=
0
.
02
)
,
the
widening
of
cortical
sulci
,
detected
by
means
of
computed
tomography
and
magnetic
resonance
imaging
(
73
%
vs
.
31
%
,
p
=
0
.
05
)
,
and
mild
renal
syndrome
(
73
%
vs
.
16
%
,
p
=
0
.
03
)
.
Besides
,
they
displayed
a
higher
rate
of
headaches
(
87
%
vs
.
62
%
)
,
chorea
(
33
%
vs
.
8
%
)
,
epilepsy
(
27
%
vs
.
8
%
)
,
non-carrying
of
pregnancy
(
91
%
vs
.
50
%
)
,
peripheral
venous
thrombosis
(
27
%
vs
.
15
%
)
,
coronary
heart
disease
(
47
%
vs
.
31
%
)
,
cardiac
valvular
thickening
,
detected
by
means
of
EchoCG
(
93
%
vs
.
69
%
)
,
arterial
hypertension
(
87
%
vs
.
54
%
)
,
thrombocytopenia
(
20
%
vs
.
0
)
,
anemia
(
40
%
vs
.
15
%
)
;
however
,
the
difference
was
not
significant
.
The
results
show
that
aPE
detection
,
performed
in
addition
to
detection
of
classic
immunological
antiphospholipid
syndrome
markers
(
aKL
and
LA
)
,
increases
the
portion
of
aPE-
positive
patients
with
SS
by
33
%
.
aPE
are
often
(
in
46
%
of
cases
)
found
in
aKL-
and
LA
-negative
patients
with
SS
.
aPE
is
likely
to
be
the
most
significant
factor
of
thrombosis
in
small
arteries
of
the
brain
cortex
and
kidneys
,
which
could
explain
their
association
with
dementia
and
renal
syndrome
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated