Rare Diseases Symptoms Automatic Extraction
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Thrombophilia and stroke.
[sneddon syndrome]
Thrombophilia
is
defined
as
an
enhanced
tendency
to
form
intravascular
thrombi
,
which
may
be
arterial
or
venous
.
Of
the
inherited
thrombophilias
,
factor
V
Leiden
and
the
prothrombin
2021
0
mutation
have
been
associated
with
stroke
,
but
this
association
is
statistically
significant
only
in
children
and
adults
under
age
40
.
The
risk
of
stroke
in
persons
with
these
mutations
is
substantially
increased
by
concomitant
exposure
to
oral
contraceptives
.
Hyperhomocystinemia
is
a
major
risk
factor
for
stroke
as
well
as
Alzheimer
's
disease
;
persons
with
deficiencies
of
vitamin
B
12
or
folic
acid
are
especially
vulnerable
to
these
complications
.
Of
the
acquired
thrombophilias
,
the
antiphospholipid
antibody
syndrome
is
strongly
associated
with
transient
ischemic
attacks
,
cerebral
infarction
,
Sneddon
syndrome
,
and
dementia
.
The
diagnosis
of
thrombophilia
should
be
considered
in
stroke
patients
who
are
young
,
have
a
family
history
of
thrombosis
,
suffer
venous
dural
sinus
thrombosis
,
or
have
recurrent
strokes
.
Diseases
Validation
Diseases presenting
"hyperhomocystinemia"
symptom
homocystinuria without methylmalonic aciduria
sneddon syndrome
This symptom has already been validated