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Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition.
[von hippel-lindau disease]
These
clinical
guidelines
outline
the
criteria
and
recommendations
for
diagnostic
and
genetic
work-up
of
families
suspected
of
von
Hippel-
Lindau
disease
(
vHL
)
,
as
well
as
recommendations
for
prophylactic
surveillance
for
vHL
patients
.
The
guideline
has
been
composed
by
the
Danish
Coordination
Group
for
vHL
which
is
comprised
of
Danish
doctors
and
specialists
interested
in
vHL
.
The
recommendations
are
based
on
longstanding
clinical
experience
,
Danish
original
research
,
and
extensive
review
of
the
international
literature
.
vHL
is
a
hereditary
multi-tumour
disease
caused
by
germline
mutations
in
the
VHL
gene
.
vHL
is
inherited
in
an
autosomal
dominant
manner
.
Predisposed
individuals
are
advised
to
undergo
prophylactic
examinations
,
as
they
are
at
lifelong
risk
of
developing
multiple
cysts
and
tumours
,
especially
in
the
cerebellum
,
the
spinal
cord
,
the
retina
(
hemangioblastomas
)
,
the
kidneys
(
renal
cell
carcinoma
)
,
the
adrenal
glands
(
pheochromocytoma
)
,
the
pancreas
,
as
well
as
in
other
organs
.
As
many
different
organs
can
be
affected
,
several
medical
specialities
often
take
part
in
both
diagnosis
and
treatment
of
manifestations
.
vHL
should
be
suspected
in
individuals
with
a
family
history
of
the
disease
,
and
/
or
in
individuals
with
a
vHL-associated
manifestation
;
i
.
e
.
a
hemangioblastoma
in
the
retina
or
the
central
nervous
system
,
familial
or
bilateral
pheochromocytomas
,
familial
,
multiple
,
or
early
onset
renal
cell
carcinomas
,
and
in
individuals
with
an
endolymphatic
sac
tumour
in
the
inner
ear
.
Individuals
suspected
of
vHL
should
be
referred
to
a
department
of
clinical
genetics
for
genetic
work-up
and
counselling
as
well
as
have
a
clinical
work-up
to
identify
any
undiagnosed
vHL-associated
manifestations
.
This
guideline
describes
the
elements
of
the
clinical
diagnostic
work-up
,
as
well
as
the
genetic
work-up
,
counselling
,
and
mutation
screening
.
Individuals
who
are
affected
with
vHL
,
individuals
at
risk
of
vHL
,
and
VHL
-
mutation
carriers
are
advised
to
follow
the
surveillance
program
which
consists
of
regular
prophylactic
examinations
relevant
to
different
age
groups
.
The
examinations
are
recommended
to
start
in
infancy
with
annual
paediatric
examinations
and
ophthalmoscopy
until
the
age
of
five
years
.
From
five
to
14
years
,
annual
plasma-metanephrine
and
plasma-normetanephrine
tests
,
as
well
as
annual
hearing
examinations
are
added
.
Also
,
an
MRI
(
Magnetic
Resonance
Imaging
)
examination
of
the
CNS
and
abdomen
should
be
done
between
the
ages
of
eight
and
14
years
.
After
the
age
of
15
years
,
individuals
should
be
referred
to
:
a
)
annual
ophthalmoscopy
in
dilation
,
b
)
annual
neurological
examination
,
c
)
every
two
years
:
MRIs
of
the
CNS
,
including
the
inner
ear
,
d
)
annual
ultrasound
/
MRI
of
the
abdomen
,
e
)
annual
plasma-metanephrine
,
plasma-normetanephrine
,
and
plasma-chromogranin
A
tests
,
and
f
)
annual
hearing
examination
at
a
department
of
audiology
.
It
is
advised
that
one
doctor
takes
on
the
responsibility
of
coordination
of
and
referral
to
the
many
examinations
,
and
the
communication
with
the
patient
.
To
facilitate
the
coordination
,
and
especially
for
the
patients
'
own
use
,
a
mobile
chart
can
be
used
.
In
2012
,
the
Danish
vHL
Coordination
Group
established
a
national
vHL
database
comprising
individuals
with
vHL
and
their
relatives
,
as
well
as
individuals
examined
for
vHL
.
The
database
is
designated
to
be
a
treatment
and
diagnostic
instrument
,
as
well
as
a
tool
in
future
vHL
research
in
Denmark
.
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