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Von hippel-lindau disease: a new approach to an old problem.
[von hippel-lindau disease]
Von
Hippel-
Lindau
(
VHL
)
disease
is
a
hereditary
,
autosomal
dominant
syndrome
which
is
manifested
by
a
range
of
different
benign
and
malignant
tumors
.
This
disease
can
present
with
different
clinical
presentations
such
as
;
retinal
angioma
(
RA
)
,
hemangioblastoma
(
HB
)
of
the
central
nervous
system
(
CNS
)
,
pheochromocytoma
(
Pheo
)
,
and
epididymal
cystadenoma
.
Tumors
are
usually
accompanied
with
cysts
.
As
the
disease
can
display
different
clinical
presentations
,
which
are
mainly
unspecific
,
and
considering
the
importance
of
an
early
diagnosis
and
the
proper
and
early
management
of
it
,
this
study
was
carried
out
to
present
a
general
overview
of
VHL
.
Moreover
,
the
present
article
reviews
screening
methods
and
emphasizes
the
need
for
increasing
the
awareness
of
different
health
care
professionals
to
diagnose
and
refer
the
patients
in
the
early
stages
.
A
thorough
search
of
internet
medical
databases
,
such
as
PubMed
,
was
carried
out
on
known
or
suggested
;
clinical
presentations
,
pathogenesis
,
screening
,
causes
and
criteria
for
diagnosis
of
patients
and
their
referrals
.
Our
research
demonstrated
that
VHL
is
caused
by
a
mutation
in
the
von
Hippel-
Lindau
(
VHL
)
gene
.
It
also
showed
that
different
screening
methods
can
be
utilized
for
the
early
diagnosis
and
referral
of
patients
.
Different
clinical
presentations
of
the
disease
are
also
elaborated
in
some
detail
and
their
treatment
options
are
discussed
.
Considering
the
need
for
a
multidisciplinary
approach
to
VHL
,
especially
,
given
the
number
of
cases
which
have
been
reported
and
diagnosed
in
Iran
,
it
is
of
great
importance
that
clinicians
remain
vigilant
in
order
to
identify
cases
that
present
with
clinical
characteristics
of
the
disease
,
and
that
they
are
prompt
in
referring
them
to
a
multidisciplinary
VHL
clinic
.
It
is
also
important
to
establish
links
with
existing
VHL
Family
Alliances
and
other
related
organizations
around
the
world
.
Diseases
Validation
Diseases presenting
"different clinical presentations of the disease"
symptom
von hippel-lindau disease
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