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Factor V Leiden mutation in Sneddon syndrome.
[sneddon syndrome]
Sneddon
syndrome
(
SNS
)
is
characterized
by
the
association
of
ischaemic
cerebrovascular
events
and
widespread
livedo
racemosa
.
Its
pathophysiology
is
still
controversial
.
The
aim
of
this
study
was
to
evaluate
the
prevalence
of
factor
V
Leiden
mutation
in
consecutive
patients
referred
for
SNS
according
to
antiphospholipid
antibodies
(
aPL
)
status
.
Fifty
-
three
Caucasian
patients
were
enrolled
from
1996
to
2001
.
Diagnosis
of
SNS
was
based
on
the
presence
of
a
widespread
livedo
racemosa
and
at
least
one
clinical
neurologic
ischaemic
event
.
The
following
investigations
were
performed
:
detection
of
antithrombin
III
,
protein
C
and
protein
S
deficiency
,
lupus
anticoagulant
,
anticardiolipin
and
anti-
beta
2
glycoprotein
I
antibodies
,
biologic
false-
positive
test
for
syphilis
,
and
factor
V
Leiden
mutation
by
direct
genomic
analysis
.
Fisher
's
test
and
t-test
were
used
for
statistics
.
Detection
of
aPL
on
multiple
determinations
was
negative
in
31
patients
(
group
1
)
and
positive
in
22
patients
(
group
2
)
.
Factor
V
Leiden
mutation
was
detected
in
six
patients
(
11
.
3
%
)
,
heterozygous
in
all
.
The
frequency
of
this
mutation
was
statistically
higher
in
group
1
(
6
/
31
,
19
.
3
%
)
than
in
group
2
(
0
/
22
;
P
=
0
.
035
)
.
Within
aPL-negative
SNS
,
the
comparison
of
patients
with
versus
without
factor
V
Leiden
mutation
showed
no
difference
for
clinical
data
or
familial
history
of
thrombosis
.
A
high
prevalence
of
heterozygous
factor
V
mutation
was
found
in
aPL-negative
patients
with
SNS
.
This
finding
adds
further
arguments
to
consider
SNS
as
a
heterogeneous
entity
.
