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[PET-CT documented complete remission of Erdheim-Chester disease, lasting more than 4 years from treatment initiation with cladribine].
[erdheim-chester disease]
Erdheim-
Chester
disease
is
a
very
rare
histiocytic
disease
.
It
represents
one
form
of
juvenile
xanthogranuloma
in
WHO
classification
of
blood
diseases
.
The
disease
often
causes
B
symptoms
,
skeletal
pain
and
also
may
cause
diabetes
insipidus
and
retroperitoneal
fibrosis
.
Selection
of
therapy
depends
on
published
case
reports
and
small
clinical
trials
.
There
are
no
recommendations
for
treatment
based
on
randomized
studies
.
Interferon
α
is
probably
the
most
commonly
used
drug
for
this
disease
.
Some
remissions
have
been
described
after
treatment
.
However
,
long
-term
interferon
α
application
is
needed
which
is
associated
with
numerous
side
effects
.
There
are
limited
experiences
with
clabridine
in
this
indication
.
In
Pubmed
Medline
database
,
we
have
found
3
publications
dedicated
to
description
of
treatment
response
after
cladribine
in
Erdheim-
Chester
disease
and
other
7
papers
evaluating
effect
of
cladribine
on
juvenile
xanthogranuloma
forms
,
mostly
with
positive
outcome
.
Based
on
these
10
publications
we
choose
cladribine
as
first
-line
treatment
in
our
patient
.
The
treatment
started
in
October
2009
with
combination
of
2
-
chlorodeoxyadenosine
(
Litak
)
5
mg
/
m
2
sc
.
+
cyclophosphamide
150
mg
/
m
2
iv
.
+
dexamethasone
24
mg
iv
.
,
five
days
consecutively
.
These
cycles
were
repeated
monthly
.
Mentioned
formula
was
submitted
4
times
and
3
times
in
limited
application
on
day
1
-
3
.
The
reason
of
that
was
neutropenia
grade
3
.
All
symptoms
disappeared
after
treatment
.
Only
diabetes
insipidus
persisted
because
damage
of
pituitary
stalk
is
irreversible
.
Therapeutic
effect
was
monitored
by
PET-
CT
imaging
,
initially
every
6
months
,
later
in
12
-
month
intervals
.
PET-
CT
imaging
showed
complete
remission
of
disease
and
4
.
5
years
duration
of
remission
after
treatment
.
The
treatment
was
well
tolerated
with
no
complications
implying
hospitalization
.
Only
mild
thrombocytopenia
and
neutropenia
remains
after
4
.
5
years
.
Based
on
case
report
and
publications
we
consider
cladribine
as
appropriate
firs-line
drug
for
Erdheim-
Chester
disease
.
Therapeutic
failure
after
3
-
4
cycles
may
suggest
other
options
(
interferon
α
,
anakinra
,
vemurafenib
)
,
but
only
in
the
case
if
healthcare
provider
is
willing
to
cover
this
new
and
more
expansive
treatment
than
therapy
with
cladribine
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated