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Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
[fabry disease]
Fabry
disease
'
(
FD
)
phenotype
is
heterogeneous
:
alpha-galactosidase
A
gene
mutations
(
GLA
)
can
lead
to
classical
or
non-classical
FD
,
or
no
FD
.
The
aim
of
this
study
is
to
describe
pitfalls
in
diagnosing
non-classical
FD
and
assess
the
diagnostic
value
of
plasma
globotriaosylsphingosine
.
This
is
a
case
series
study
.
Family
1
(
p
.
A
143
T
)
presented
with
hypertrophic
cardiomyopathy
(
HCM
)
,
absent
classical
FD
signs
,
high
residual
alpha-galactosidase
A
activity
(
AGAL-A
)
and
normal
plasma
globotriaosylsphingosine
.
Co
-segregating
sarcomeric
mutations
were
found
.
Cardiac
biopsy
excluded
FD
.
In
family
2
(
p
.
P
60
L
)
,
FD
was
suspected
after
kidney
biopsy
in
a
female
with
chloroquine
use
.
Males
had
residual
AGAL-A
,
no
classical
FD
signs
and
minimally
increased
plasma
globotriaosylsphingosine
,
indicating
that
p
.
P
60
L
is
most
likely
non-pathogenic
.
Non-
specific
complications
and
histology
can
be
explained
by
chloroquine
and
alternative
causes
.
Males
of
two
unrelated
families
(
p
.
R
112
H
)
show
AGAL-A
<
5
%
,
but
slightly
elevated
plasma
globotriaosylsphingosine
(
1
.
2
-
2
.
0
classical
males
>
50
nmol
/
l
)
.
Histological
evidence
suggests
a
variable
penetrance
of
this
mutation
.
Patients
with
GLA
mutations
and
non-
specific
findings
such
as
HCM
may
have
non-classical
FD
or
no
FD
.
Other
(
genetic
)
causes
of
FD
-like
findings
should
be
excluded
,
including
medication
inducing
FD
-like
storage
.
Plasma
globotriaosylsphingosine
may
serve
as
a
diagnostic
tool
,
but
histology
of
an
affected
organ
is
often
mandatory
.
Diseases
Validation
Diseases presenting
"histology can be explained by chloroquine and alternative causes"
symptom
fabry disease
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