Respirology Case Reports,
Journal Year:
2024,
Volume and Issue:
12(10)
Published: Oct. 1, 2024
Abstract
VEXAS
(vacuoles,
E1
enzyme,
X‐linked,
autoinflammatory,
and
somatic)
syndrome
is
a
rare
multisystem
disease
affecting
predominantly
males
over
50
manifesting
as
widespread
progressive
inflammatory
sequelae
haematological
dysfunction.
We
describe
patient
who
presented
with
systemic
symptoms
of
fevers,
night
sweats
weight
loss,
developed
including
cutaneous
lesions,
dysfunction,
lymphadenopathy,
migratory
arthropathies,
new
pulmonary
infiltrates,
following
infection
Epstein
Barr
Virus.
Laboratory
investigations,
bronchoscopy,
bone
marrow
biopsy
imaging
were
consistent
an
aetiology.
The
constellation
organ
system
involvement,
laboratory,
biopsy,
results
suspicious
for
syndrome,
this
diagnosis
was
confirmed
by
identification
somatic
mutation
in
the
UBA1
gene
extensive
exclusion
infectious
autoimmune
causes.
Interestingly
onset
coincided
serological
confirmation
Virus
raising
importance
further
exploration
into
underlying
aetiology
syndrome.
American Journal of Hematology,
Journal Year:
2023,
Volume and Issue:
99(2), P. 284 - 299
Published: Nov. 11, 2023
Abstract
VEXAS
(Vacuoles,
E1
enzyme,
X‐linked,
Autoinflammatory,
Somatic)
syndrome
is
a
newly
identified
disease
caused
by
somatic
alterations
in
UBA1
which
produce
recalcitrant
inflammatory
state
along
with
hematologic
disturbances.
Patients
can
have
wide
spectrum
of
clinical
symptoms
and
providers
should
be
familiar
the
heterogeneity
associated
features.
While
parameters
may
generally
non‐specific,
peripheral
blood
features
macrocytosis,
monocytopenia,
and/or
thrombocytopenia
coupled
bone
marrow
vacuolization
erythroid
or
myeloid
precursors
raise
suspicion
for
this
condition.
Due
to
an
increased
mortality,
prompt
recognition
accurate
diagnosis
paramount.
Access
testing
confirmation
variants
not
yet
universally
available
but
clinicians
understand
current
options
genetic
disease.
Treatment
are
limited
due
lack
prospective
trials
cytokine
directed
therapies
such
as
interleukin‐6
inhibitors
JAK–STAT
well
hypomethylating
agents
azacitidine
shown
evidence
partial
effect.
Though
cases
limited,
allogeneic
stem
cell
transplantation
holds
promise
durable
response
potential
cure.
The
intent
review
outline
pathophysiology
provide
practical
approach
treatment.
Arthritis & Rheumatology,
Journal Year:
2024,
Volume and Issue:
76(6), P. 942 - 948
Published: Jan. 16, 2024
Somatic
variants
in
UBA1
cause
VEXAS,
a
recently
described,
systemic
autoinflammatory
disease.
Research
on
VEXAS
has
largely
focused
highly
symptomatic
patients.
We
sought
to
determine
the
prevalence
of
canonical,
VEXAS-associated
somatic
and
their
disease
penetrance
diverse,
unselected
population.
International Journal of Hematology,
Journal Year:
2024,
Volume and Issue:
unknown
Published: May 31, 2024
Abstract
VEXAS
syndrome
is
a
recently
identified,
adult-onset
autoinflammatory
disease
caused
by
somatic
mutations
in
UBA1
.
an
X-linked
gene
encoding
E1
ubiquitin
activating
enzyme
and
its
mutation
hematopoietic
stem
progenitor
cells
leads
to
their
clonal
expansion
myeloid-skewed
differentiation.
are
clustered
at
the
second
methionine
(p.Met41),
eliminating
UBA1b
isoform
translated
from
p.Met41.
Loss
of
impairs
ubiquitination
activates
innate
immune
pathways,
leading
systemic
autoinflammation
manifested
as
recurrent
fever,
chondritis,
pulmonary
involvement,
vasculitis,
or
neutrophilic
dermatitis.
frequently
associated
with
hematological
disorders
such
myelodysplastic
(MDS),
plasma
cell
dyscrasia
venous
thromboembolism.
Macrocytic
anemia/macrocytosis
vacuoles
myeloid/erythroid
precursors
prominent
features
syndrome,
presence
patients
symptoms
prompts
physicians
screen
for
variant.
Treatment
challenging
no
consistently
effective
therapies
have
been
established.
Anti-inflammation
including
glucocorticoids
anti-interleukin-6
shown
limited
efficacy,
while
azacytidine
JAK
inhibitors
ruxolitinib
were
found
induce
favorable,
mid-term
responses.
Hematopoietic
transplantation
only
curative
option
should
be
considered
younger,
fit
poor
prognostic
factors
recalcitrant
symptoms.
Critical Care,
Journal Year:
2025,
Volume and Issue:
29(1)
Published: April 17, 2025
Abstract
Background
Vacuoles,
E1
enzyme,
X-linked,
autoinflammatory,
somatic
(VEXAS)
syndrome
is
a
recently
discovered
severe
disorder
that
predominantly
affects
adult
males,
characterized
by
systemic
inflammation
and
hematologic
abnormalities.
Despite
its
profound
impact
on
patient
outcomes,
awareness
of
VEXAS
among
critical
care
providers
remains
severely
limited,
often
leading
to
delayed
recognition,
diagnosis,
initiation
appropriate
treatment.
This
study
aims
address
this
knowledge
gap
conducting
scoping
review
in
the
setting.
Methods
followed
PRISMA-ScR
guidelines
Joanna
Briggs
Institute
methodology,
analyzing
data
from
Cochrane
CENTRAL,
MEDLINE
via
PubMed,
EMBASE,
Web
Science
May
19,
2024.
We
included
studies
reported
clinical
features
treatments
patients
with
requiring
care.
Results
Of
1262
reports
identified,
78
met
inclusion
criteria,
including
45
case
reports/series,
17
observational
studies,
15
reviews,
one
systematic
review.
Analysis
55
cases
revealed
median
age
69
strong
male
predominance
(54/55).
ICU
admission
rates
ranged
28
33%,
mortality
between
18
40%.
Critical
manifestations
shock,
hemophagocytic
lymphohistiocytosis,
acute
respiratory
distress
syndrome,
thrombosis,
airway
edema.
Sepsis
was
cause
death,
other
causes
related
organ
failure,
cardiovascular
events,
intestinal
perforation.
Treatment
approaches
combined
conventional
measures
immunosuppressive
immunomodulatory
therapies,
although
infectious
complications
were
frequently
reported.
Conclusion
lack
systematically
analyzed
focusing
setting,
suggesting
significant
understanding
characteristics
optimal
for
syndrome.
Further
research
focused
setting
essential
improve
early
develop
standardized
treatment
protocols,
ultimately
outcomes
complex
population.
Abstract
Background
Vacuoles,
E1
enzyme,
X-linked,
autoinflammatory,
somatic
(VEXAS)
syndrome
is
an
acquired
autoinflammatory
disease
caused
by
variants
in
the
UBA1
gene.
Chest
shadows
are
common
among
a
variety
of
symptoms
and
responsive
to
steroids
other
drugs,
but
sometimes
flare
up.
We
present
rare
case
VEXAS
which
chest
improved
after
no
treatment.
Case
presentation
An
86-year-old
Japanese
man
with
diabetes
mellitus
was
admitted
for
fatigue
elevated
serum
C-reactive
protein
levels.
Antibiotic
therapy
initiated,
causative
organisms
were
cultured
from
various
specimens.
The
patient
discharged
improvement
readmitted
gradual
development
anorexia
fatigue.
Elevated
bicytopenia
found,
granular
frosted
detected
bilateral
lungs
computed
tomography.
Bronchoscopy
revealed
malignant
cells
nor
granulomas.
Bone
marrow
aspiration
performed
due
bicytopenia,
revealing
vacuoles
proerythroblasts
myeloblasts.
Targeted
next-generation
sequencing
hybrid
capture
variant
gene
(p.Met41Thr).
Thus,
diagnosis
(vacuoles,
somatic)
made.
refused
treatment,
there
has
been
recurrence
worsening
2
months
later.
Conclusion
typically
presents
including
shadows.
In
cases
have
stable
condition
syndrome,
may
be
followed
carefully
without
any
treatment
because
concerns
about
side
effects
or
drugs.
