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[Familial Mediterranean fever (paroxismal polyserositis, familial recurring polyserositis, periodic disease)].
[familial mediterranean fever]
Paroxismal
polyserositis
is
an
orphan
disease
most
often
affecting
Mediterranean
populations
.
It
is
caused
by
a
mutation
on
chromosome
16
leading
to
pyrine
synthesis
disorder
.
The
disease
has
a
characteristic
clinical
picture
,
the
most
prominent
manifestation
being
recurrent
aseptic
inflammation
of
serous
membranes
especially
in
peritoneum
,
marked
temperature
reaction
,
and
apparent
spontaneous
recovery
in
the
attack-free
period
.
Inadequate
or
excessively
intense
treatment
may
cause
complication
in
the
form
of
secondary
amyloidosis
of
internal
organs
.
The
most
effective
therapeutic
modality
is
daily
intake
of
colchicine
at
a
dose
of
1
-
1
.
5
mg
.
Diseases
Validation
Diseases presenting
"amyloidosis"
symptom
cadasil
fabry disease
familial mediterranean fever
hereditary cerebral hemorrhage with amyloidosis
lymphangioleiomyomatosis
phenylketonuria
systemic capillary leak syndrome
triple a syndrome
waldenström macroglobulinemia
This symptom has already been validated