Rare Diseases Symptoms Automatic Extraction
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The presence of mast cell clonality in patients with unexplained anaphylaxis.
[cutaneous mastocytosis]
The
mechanisms
by
which
mast
cells
in
patients
with
unexplained
anaphylaxis
(
UEA
)
are
triggered
remain
elusive
.
Onset
of
episodes
is
unpredictable
and
often
recurrent
.
The
substantial
overlap
between
the
clinical
manifestations
of
UEA
and
clonal
mast
cell
disorders
(
CMD
)
suggests
an
association
between
these
rare
disorders
.
The
two
forms
of
CMD
characterized
to
date
are
systemic
mastocytosis
(
SM
)
and
monoclonal
mast
cell
activation
syndrome
(
MMAS
)
.
To
examine
the
hypothesis
that
the
pathogenesis
of
UEA
reflects
the
presence
of
aberrant
subpopulations
of
mast
cells
.
Thirty
(
14
men
,
16
women
)
patients
(
≥
18
years
)
suffering
from
UEA
and
with
no
signs
of
cutaneous
mastocytosis
were
recruited
.
Patients
underwent
an
initial
complete
allergy
work-up
to
confirm
the
diagnosis
of
UEA
.
Level
of
baseline
serum
tryptase
(
sBT
)
and
total
IgE
were
determined
.
In
addition
,
a
bone
marrow
examination
was
performed
on
all
30
patients
to
investigate
possible
underlying
CMD
.
Fourteen
(
47
%
)
of
our
cases
(
nine
men
,
five
women
)
were
diagnosed
with
CMD
:
10
with
SM
and
four
with
MMAS
.
Four
of
the
10
patients
with
SM
had
mast
cell
aggregates
in
their
bone
marrow
.
All
patients
with
SM
exhibited
a
sBT
level
>
11
.
4
ng
/
mL
,
whereas
this
level
was
elevated
in
only
two
of
those
with
MMAS
and
four
with
UAE
but
not
diagnosed
with
CMD
.
Total
IgE
levels
were
lower
in
the
group
of
patients
with
CMD
(
P
<
0
.
03
)
.
The
pathogenic
mechanism
underlying
UEA
could
be
explained
by
the
presence
of
immunophenotypically
aberrant
mast
cells
with
clonal
markers
in
47
%
of
our
subjects
,
indicating
that
clonal
mast
cell
disorders
are
present
in
a
substantial
subset
of
these
patients
.
Thus
,
the
presence
of
CMD
should
be
considered
in
patients
with
UEA
if
they
have
an
elevated
level
of
sBT
(
≥
11
.
4
ng
/
mL
)
and
cardiovascular
symptoms
such
as
syncope
.