Rare Diseases Symptoms Automatic Extraction
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Diagnosis of endocrine disease: Biochemical diagnosis of phaeochromocytoma and paraganglioma.
[adrenal incidentaloma]
Adrenal
phaechromocytomas
and
extra
-
adrenal
sympathetic
paragangliomas
(
PPGLs
)
are
rare
neuroendocrine
tumours
,
characterised
by
production
of
the
catecholamines
:
noradrenaline
,
adrenaline
and
dopamine
.
Tumoural
secretion
of
catecholamines
determines
their
clinical
presentation
which
is
highly
variable
among
patients
.
Up
to
10
-
15
%
of
patients
present
entirely
asymptomatic
and
in
5
%
of
all
adrenal
incidentalomas
a
PPGL
is
found
.
Therefore
,
prompt
diagnosis
of
PPGL
remains
a
challenge
for
every
clinician
.
Early
consideration
of
the
presence
of
a
PPGL
is
of
utmost
importance
,
because
missing
the
diagnosis
can
be
devastating
due
to
potential
lethal
cardiovascular
complications
of
disease
.
First
step
in
diagnosis
is
proper
biochemical
analysis
to
confirm
or
refute
the
presence
of
excess
production
of
catecholamines
or
their
metabolites
.
Biochemical
testing
is
not
only
indicated
in
symptomatic
patients
but
also
in
asymptomatic
patients
with
adrenal
incidentalomas
or
identified
genetic
predispositions
.
Measurements
of
metanephrines
in
plasma
or
urine
offer
the
best
diagnostic
performance
and
are
the
tests
of
first
choice
.
Paying
attention
to
sampling
conditions
,
patient
preparation
and
use
of
interfering
medications
is
important
,
as
these
factors
can
largely
influence
test
results
.
When
initial
test
results
are
inconclusive
,
additional
tests
can
be
performed
,
such
as
the
clonidine
suppression
test
.
Test
results
can
also
be
used
for
estimation
of
tumour
size
or
prediction
of
tumour
location
and
underlying
genotype
.
Furthermore
,
tumoural
production
of
3
-
methoxytyramine
is
associated
with
presence
of
an
underlying
SDHB
mutation
and
may
be
a
biomarker
of
malignancy
.
