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Colchicine failure in familial Mediterranean fever and potential alternatives: embarking on the anakinra trial.
[familial mediterranean fever]
Familial
Mediterranean
fever
(
FMF
)
is
a
genetic
auto-
inflammatory
disease
characterized
by
spontaneous
short
attacks
of
fever
,
elevated
acute
-phase
reactants
,
and
serositis
.
Approximately
5
%
-
10
%
of
FMF
patients
do
not
respond
to
colchicine
treatment
and
another
5
%
are
intolerant
to
colchicine
because
of
side
effects
.
Recently
,
following
the
discovery
of
the
inflammasome
and
recognition
of
the
importance
of
interleukin-
1
beta
(
IL
-
1
beta
)
as
the
major
cytokine
involved
in
the
pathogenesis
of
FMF
,
IL
-
1
beta
blockade
has
been
suggested
and
tried
sporadically
to
treat
FMF
,
with
good
results
.
To
date
,
case
reports
and
small
case
series
involving
colchicine-resistant
FMF
patients
and
showing
high
efficacy
of
IL
-
1
beta
blockade
have
been
reported
.
At
the
Israel
Center
for
FMF
at
the
Sheba
Medical
Centerthe
first
double
-blind
randomized
placebo-controlled
trial
of
anakinra
in
FMF
patients
who
are
resistant
or
intolerant
to
colchicines
is
underway
.
In
this
report
we
discuss
the
mechanism
of
colchicine
resistance
in
FMF
patients
,
the
data
in
the
literature
on
IL
1
beta
blockade
in
these
patients
,
and
the
anakinra
trial
inclusion
criteria
and
study
protocol
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated