Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Interleukin-1 receptor blockade with anakinra provided cessation of fatigue, reduction in inflammation markers and regression of retroperitoneal fibrosis in a patient with Erdheim-Chester disease - case study and a review of literature].
[erdheim-chester disease]
We
describe
a
case
of
an
Erdheim-
Chester
disease
patient
.
First
line
chemotherapy
treatment
with
2
-
chlorodeoxyadenosine
did
not
reduce
fluorodeoxyglucose
accumulation
in
pathological
lesions
.
The
patient
had
continuously
increased
CRP
values
of
17
-
20
mg
/
l
.
The
disease
continued
to
cause
subfebrile
temperatures
and
significant
fatigue
that
made
the
patient
to
spend
most
of
the
daytime
in
bed
.
To
manage
the
permanently
increased
inflammation
markers
,
we
decided
to
start
treatment
with
anakinra
,
successfully
used
in
some
other
autoinflammatory
diseases
(
e
.
g
.
Schnitzler
syndrome
)
.
We
have
now
been
able
to
evaluate
the
first
6
months
of
treatment
.
Daily
subcutaneous
administration
of
anakinra
(
KineretTM
100
mg
daily
)
led
to
normalization
of
CRP
values
,
cessation
of
subfebrile
temperatures
and
,
importantly
,
significant
reduction
of
fatigue
.
Time
periods
the
patient
was
able
to
spend
out
of
the
bed
increased
significantly
.
Consequent
to
the
reduced
fatigue
,
the
patient
was
able
to
perform
basic
household
tasks
he
was
unable
to
undertake
without
treatment
.
After
3
months
of
treatment
,
fatigue
of
the
same
intensity
returned
following
a
short
interruption
of
therapy
.
The
CRP
values
went
up
again
to
12
mg
/
l
.
CRP
value
returned
back
to
norm
and
fatigue
ceased
after
re
-initiation
of
daily
Kineret
injections
.
Objective
treatment
response
was
assessed
by
measuring
the
degree
of
fluorodeoxyglucose
accumulation
in
pathological
bone
lesions
.
PET-
CT
was
performed
before
and
3
and
6
months
after
anakinra
initiation
.
Intensity
of
accumulation
did
not
change
significantly
after
the
first
3
months
of
therapy
but
decreased
after
6
month
therapy
.
Follow
up
CT
of
abdominal
cavity
was
performed
at
the
end
of
the
6
th
month
of
treatment
.
Presented
CT
images
from
before
and
6
months
after
the
treatment
evidence
an
obvious
reduction
in
fibroid
changes
in
the
retroperitoneum
.
Daily
administration
of
anakinra
to
a
patient
with
active
Erdheim-
Chester
disease
significantly
reduced
intensity
of
fatigue
and
improved
quality
of
life
,
led
to
a
reduction
in
inflammatory
markers
and
regression
in
retroperitoneal
fibrotization
.
Diseases
Validation
Diseases presenting
"fatigue"
symptom
benign recurrent intrahepatic cholestasis
cholangiocarcinoma
congenital adrenal hyperplasia
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dracunculiasis
erdheim-chester disease
esophageal carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
lymphangioleiomyomatosis
neuralgic amyotrophy
pleomorphic liposarcoma
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
This symptom has already been validated