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Amyloid goiter due to familial mediterranean Fever in a patient with byler syndrome: a case report.
[familial mediterranean fever]
Familial
Mediterranean
Fever
(
FMF
)
,
also
inherited
with
autosomal
recessive
trait
,
is
characterized
by
recurrent
episodes
of
fever
,
arthritis
,
and
serositis
.
Congenital
Byler
Syndrome
(
Progressive
Familial
Intrahepatic
Cholestasis
)
inherited
with
autosomal
recessive
trait
and
characterized
by
defective
secretion
of
bile
acids
.
FMF
associated
Amyloid
A
deposition
occurs
in
many
tissues
and
organs
,
but
amyloid
goiter
is
a
rare
entity
that
leads
to
enlargement
and
dysfunction
of
the
thyroid
.
We
present
a
rare
case
of
24
year
old
male
patient
who
had
liver
and
kidney
transplantation
due
to
Byler
Syndrome
and
secondary
amyloidosis
related
to
FMF
,
diagnosed
as
rapidly
growing
large
amyloid
goiter
.
Deposits
of
extracellular
amyloid
and
dense
adipose
metaplasia
diagnostic
for
amyloid
goiter
are
determined
upon
histopathological
examination
of
thyroidectomy
material
.
When
goiter
was
detected
in
cases
with
history
of
systemic
amyloidosis
and
rapidly
growing
goitre
,
amyloid
goiter
should
be
remembered
at
first
.
This
case
is
unique
since
two
autosomal
genetic
disorders
are
together
in
the
same
patient
and
important
as
it
emphasizes
the
consequences
of
consanguineous
marriage
,
early
diagnosis
and
treatment
compliance
of
FMF
and
the
awareness
of
amyloid
goiter
in
patients
followed
by
primary
care
physicians
and
healthcare
professionals
.
Diseases
Validation
Diseases presenting
"secondary amyloidosis related to fmf"
symptom
familial mediterranean fever
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