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[Clotting factor VIII in Sneddon syndrome].
[sneddon syndrome]
Hyperactivity
of
coagulation
factor
VIII
(
fVIII
)
marks
hypercoagulation
.
FVIII
enhances
activity
of
factor
IX
and
their
combination
activates
factor
X
,
which
is
of
primary
importance
in
prothrombin
transformation
into
thrombin
,
on
the
phospholipid
membrane
.
The
activity
of
fVIII
was
studied
in
28
patients
(
26
women
,
2
men
,
mean
age
49
.
6
+
/
-
7
.
8
years
)
with
Sneddon
's
syndrome
(
SS
)
.
SS
manifests
clinically
similarly
to
primary
antiphospholipid
syndrome
(
PAS
)
.
The
leading
of
them
are
ischemic
disorders
of
cerebral
circulation
(
IDCC
)
and
advanced
livedo
present
in
all
the
examinees
.
Hyperactivity
of
fVIII
was
registered
in
21
(
75
%
)
of
28
patients
.
Most
of
thrombosis-related
symptoms
occurred
more
frequently
in
patients
with
high
than
normal
activity
of
fVIII
:
ischemic
strokes
(
91
%
vs
57
%
,
p
>
0
.
05
)
,
repeated
strokes
(
71
%
vs
0
%
,
p
=
0
.
0014
)
,
transient
IDCC
(
76
%
vs
57
%
,
p
>
0
.
05
)
,
vascular
dementia
(
43
%
vs
0
%
,
p
>
0
.
05
)
,
ischemic
heart
disease
(
43
%
vs
0
%
,
p
>
0
.
05
)
,
thickening
of
heart
valves
according
to
echocardiography
(
91
%
vs
57
%
,
p
>
0
.
05
)
,
peripheral
venous
thromboses
(
24
%
vs
0
%
,
p
>
0
.
05
)
.
In
high
fVIII
activity
cardiolipin
antibodies
occurred
more
rarely
(
24
%
vs
43
%
,
p
>
0
.
05
)
but
lupus
anticoagulant
was
seen
more
often
(
47
%
vs
14
%
,
p
>
0
.
05
)
.
High
fVIII
activity
was
in
8
of
12
aPL-negative
patients
.
It
is
demonstrated
that
elevated
fVIII
activity
is
an
essential
mechanism
of
thrombosis
development
in
SS
.
The
cause
of
this
enhanced
activity
is
suggested
to
be
special
aPL
in
interaction
with
which
fVIII
becomes
insensitive
to
inactivation
with
protein
C
.
The
activity
of
protein
C
was
normal
in
all
the
cases
.
Diseases
Validation
Diseases presenting
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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