Journal of Biomedical Sciences,
Год журнала:
2023,
Номер
10(2), С. 40 - 48
Опубликована: Дек. 31, 2023
Background:
VEXAS
(vacuoles,
E1
enzyme,
X-linked,
autoinflammatory,
somatic)
syndrome
is
a
recently
identified
progressive,
adult-onset,
inflammatory
disorder.
Somatic
mutations
in
the
Ubiquitin-like
modifier
activating
enzyme
1
(UBA1)
gene
at
methionine-41
(p.
Met41)
were
found
patients.
Clinical
presentations
are
not
limited
to
hematological
and
immunological
systems;
all
organ
systems
affected
by
syndrome.
The
aim
of
this
review
summarise
scientific
evidence
accrued
from
research
studies
on
syndrome,
highlighting
clinical
features
involvements
different
systems.
Conclusion:
Although
primary
manifestations
affect
haematological
systems,
they
gradually
other
systems.
Distinct
necessitate
ruling
out
possibilities
that
will
be
helpful
for
early
diagnosis.
More
should
carried
global
community
collaborative
manner
better
understanding
diagnosis
Annals of Hematology,
Год журнала:
2025,
Номер
unknown
Опубликована: Апрель 27, 2025
Abstract
VEXAS
(vacuoles,
E1
enzyme,
X-linked,
autoinflammatory,
somatic)
syndrome
is
a
monogenic
autoinflammatory
disorder
with
significant
morbidity
and
mortality.
Numerous
treatment
options
including
azacitidine,
JAK
inhibitors,
IL-6
anti-IL-1,
anti-TNF
agents
have
been
proposed.
However,
no
consensus
on
optimal
algorithm
has
reached.
This
study
aims
to
evaluate
the
efficacy
safety
of
medical
through
meta-analysis
existing
data
help
establish
clearer
guidelines
for
managing
VEXAS.
The
protocol
was
registered
in
PROSPERO
(CRD42024590134).
MEDLINE
EMBASE
were
screened
from
inception
until
March
2025.
We
included
patients
who
received
or
agents.
primary
outcome
proportion
complete
responders.
Partial
response
reported
adverse
events
also
evaluated.
A
total
16
studies
367
included.
Concomitant
myelodysplastic
(MDS)
149
(40.6%)
patients.
Azacitidine
resulted
partial
67%
[95%
CI
(0.56,0.77)]
73%
(0.64,0.82)]
cases,
respectively.
inhibitors
produced
42%
(0.33,0.52)]
79%
(0.71,0.87)].
led
24%
(0.15,0.32)]
72%
(0.64,0.81)].
Adverse
frequently
observed.
demonstrated
MDS.
may
be
viable
options.
Prospective
clinical
trials
are
needed
further
confirmation
results.
Reumatologia/Rheumatology,
Год журнала:
2023,
Номер
61(2), С. 123 - 129
Опубликована: Май 10, 2023
VEXAS
syndrome
is
an
adult-onset
autoinflammatory
disease
associated
with
hematologic
symptoms.
The
affects
primarily
males,
and
leads
to
death
of
a
significant
proportion
the
patients.
caused
by
somatic
mutation
<i>UBA1</i><i>
gene</i>
in
hematopoietic
progenitor
cells.
clinical
picture
consists
number
organ
manifestations
including
those
akin
rheumatic
diseases,
arthritis,
myalgia,
vasculitis
chondritis.
Frontiers in Medicine,
Год журнала:
2024,
Номер
11
Опубликована: Янв. 26, 2024
Lung
involvement
is
not
widely
recognized
as
a
complication
of
auto-inflammatory
diseases.
We
present
broad
approach
to
diagnose
severe
form
autoinflammatory
syndrome
in
an
adult
male
patient.
A
63-year-old
Caucasian
presented
with
recurrent
episodes
high
fever,
interstitial
lung
infiltration,
and
pleural
effusion.
Laboratory
tests
performed
during
the
flares
revealed
lymphopenia
increased
levels
C-reactive
protein
ferritin.
Broad
diagnostic
research
on
infections,
connective
tissue
diseases,
malignancies
yielded
negative
results.
The
patient’s
symptoms
promptly
resolved
upon
administration
glucocorticoids;
however,
they
reappeared
when
prednisone
dose
was
reduced.
All
attempts
administer
immunomodulatory
immunosuppressive
medications
were
ineffective.
During
follow-up,
suspected;
no
pathological
variants
monogenic
diseases
identified
by
genome-exome
sequencing.
patient
did
respond
interleukin
1
blockade
anakinra.
He
died
due
multi-organ
failure,
his
condition
remained
unresolved
until
first
reported
description
vacuole,
E1
enzyme,
X-linked,
autoinflammatory,
somatic
(VEXAS).
describe
traps
reasoning
process
involved
establishing
that
nature
based
clinical
symptoms,
addition
proof
concept
gained
from
genetic
reevaluation
identification
pathogenic
UBA1
gene.
aim
this
review
increase
awareness
VEXAS
among
pulmonologists.
Genetic
screening
for
should
be
considered
patients
pneumonitis
unknown
origin
elevated
inflammatory
markers
signs
cytopenia,
especially
if
require
chronic
steroids
control
disease.
Respiratory
manifestations
are
part
VEXAS;
these
may
dominant
course
disease
at
presentation.
Journal of Clinical Medicine,
Год журнала:
2024,
Номер
13(4), С. 1049 - 1049
Опубликована: Фев. 12, 2024
VEXAS
(vacuoles,
E1
enzyme,
X-linked,
autoinflammatory,
somatic)
syndrome
is
a
recently
recognized
systemic
autoinflammatory
disease
caused
by
somatic
mutations
in
hematopoietic
progenitor
cells.
This
case
series
of
four
patients
with
and
comorbid
myelodysplastic
(MDS)
aims
to
describe
clinical,
imaging,
hematologic
presentations
as
well
response
therapy.
Four
MDS
are
described.
A
detailed
analysis
imaging
features,
hemato-oncological
presentation
including
bone
marrow
microscopy
clinical–rheumatological
features
treatment
outcomes
given.
All
were
male;
ages
ranged
between
64
81
years;
all
diagnosed
MDS.
CT
was
available
for
three
patients,
whom
exhibited
pulmonary
infiltrates
varying
severity,
resembling
COVID-19
or
hypersensitivity
pneumonitis
without
traces
scarring.
Bone
showed
maturation-disordered
erythropoiesis
pathognomonic
vacuolation.
Somatic
mutation
the
UBA1
codon
41
found
next-generation
sequencing.
Therapy
regimes
included
glucocorticoids,
JAK1/2-inhibitors,
nucleoside
analogues,
IL-1
IL-6
receptor
antagonists.
No
fatalities
occurred
(observation
period
from
symptom
onset:
18–68
months).
Given
potential
underreporting
syndrome,
we
highly
recommend
contemporary
screening
presenting
ambiguous
signs
symptoms
which
persist
over
18
months
despite
treatment.
The
emergence
cytopenia,
especially
macrocytic
hyperchromic
anemia,
should
prompt
early
testing
mutations.
Notably
conspicuous,
alterations
therapy-resistant
be
discussed
interdisciplinary
medical
teams
(Rheumatology,
Hematology,
Radiology
further
specialist
departments)
facilitate
timely
diagnosis
during
clinical
course
disease.
Leukemia & lymphoma/Leukemia and lymphoma,
Год журнала:
2024,
Номер
65(9), С. 1245 - 1257
Опубликована: Май 21, 2024
VEXAS
syndrome
is
a
recently
described
entity
characterized
by
systemic
inflammatory
and
hematologic
manifestations.
The
disease
was
first
Beck
et
al.
in
2020
study
characterizing
25
patients
with
undiagnosed
adult-onset
syndromes.
While
the
literature
regarding
has
grown
exponentially
since
2020,
there
still
much
to
be
understood.
This
lack
of
information
leads
challenges
both
diagnosis
treatment
syndrome.
Patients
will
often
have
variety
clinical
symptoms
that
can
lead
missed
or
delayed
diagnoses.
Additionally,
awareness
developing
among
clinicians.
In
this
comprehensive
review,
we
summarize
current
syndrome,
explore
updates
emerging
state.
Our
aim
review
increase
new
state
identify
research
areas
better
understand
future
approaches
for
