Rare Diseases Symptoms Automatic Extraction
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Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease.
[fabry disease]
Management
of
Anderson-
Fabry
disease
(
AFD
)
is
contentious
,
particularly
regarding
enzyme
replacement
therapy
(
ERT
)
.
We
report
results
of
a
Delphi
consensus
panel
on
AFD
management
.
A
survey
to
gauge
consensus
among
AFD
experts
was
distributed
online
and
responses
were
analysed
.
Statements
on
:
1
)
diagnosis
;
2
)
when
starting
ERT
;
3
)
management
of
ERT
infusion
and
adverse
reactions
;
and
4
)
follow-up
/
monitoring
response
to
therapy
and
progression
of
disease
were
included
.
Responses
without
consensus
were
discussed
with
an
enlarged
panel
and
modified
to
reach
consensus
.
15
experts
responded
to
the
survey
.
After
plenary
discussion
among
the
enlarged
panel
,
consensus
was
reached
on
most
statements
.
Key
points
were
the
use
of
a
target
organ
biopsy
to
show
Gb
3
deposits
in
symptomatic
women
with
negative
molecular
analysis
,
the
need
for
ERT
in
symptomatic
women
and
in
all
patients
with
persistent
signs
and
symptoms
±
organ
damage
.
It
was
agreed
to
assess
vital
signs
before
ERT
administration
and
use
a
0
.
2
μL
filter
on
infusion
to
reduce
the
risk
of
adverse
reactions
,
that
serum
should
be
drawn
prior
to
the
first
infusion
for
anti-agalsidase
antibody
analysis
to
have
a
baseline
value
if
a
subsequent
adverse
reaction
appears
,
and
that
pre-medication
is
required
in
those
with
prior
infusion
reactions
.
Holter
ECG
monitoring
,
cardiac
and
brain
MRI
,
renal
parameters
,
and
abdominal
ultrasound
were
considered
important
for
the
assessment
of
disease
progression
and
response
at
ERT
.
T
his
consensus
supplies
guidance
to
healthcare
providers
on
best
practice
in
the
management
of
patients
with
AFD
and
indicates
a
need
for
more
guidance
.
