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Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports.
[fabry disease]
We
present
2
cases
of
teenager
males
presented
with
burning
pain
in
extremities
and
turned
out
to
be
cases
of
Fabry
disease
.
The
purpose
of
presenting
this
case
is
to
highlight
the
fact
that
suspicion
of
Fabry
disease
in
patients
presenting
with
these
symptoms
will
lead
to
early
diagnosis
and
treatment
of
this
condition
before
occurrences
of
complications
.
A
14
-
year
-old
male
presented
with
severe
burning
pain
in
both
hands
and
feet
since
last
4
yrs
which
persisted
despite
consumption
of
painkillers
and
becoming
more
disabling
and
without
having
any
family
history
for
such
condition
.
On
general
examination
patient
had
small
reddish
coloured
lesions
around
the
umbilicus
,
appearing
like
angiokeratomas
.
Skin
biopsy
confirmed
the
lesion
.
On
enzyme
assay
his
alpha
galactosidase
activity
found
to
be
'
0
'
nmol
/
hr
/
mg
of
protein
,
confirming
his
diagnosis
.
Patient
's
creatinine
and
2
D
ECHO
were
normal
and
urine
had
1
+
proteinuria
.
Patient
started
on
carbamazepine
tablets
for
pain
and
referred
to
higher
centre
for
genetic
diagnosis
and
enzyme
replacement
therapy
.
CASE
REPORT
2
:
An
18
-
year
-old
male
referred
to
our
hospital
by
general
practitioner
for
fatigue
and
pedal
oedema
with
deranged
renal
function
tests
.
On
history
taking
patient
gave
history
of
severe
burning
pain
in
both
hands
and
feet
since
age
of
9
yrs
.
Patient
's
general
examination
revealed
hypertension
with
pallor
,
pedal
oedema
along
with
angiokeratomas
in
bathing
suit
distribution
.
Patient
's
ultrasonography
of
kidney
revealed
bilaterally
normal
sized
kidneys
with
altered
echotexture
and
urine
examination
showed
fine
granular
foamy
cells
with
sub
nephrotic
range
proteinuria
.
2
D
ECHO
revealed
concentric
left
ventricular
hypertrophy
.
Skin
biopsy
report
supported
the
diagnosis
of
Fabry
disease
.
Patient
advised
to
undergo
renal
biopsy
to
confirm
Fabry
nephropathy
but
patient
denied
any
further
diagnostic
workup
for
nephropathy
or
Fabry
disease
.
Patient
started
on
conservative
treatment
and
carbamazepine
in
renal
dose
given
for
acroparaesthesias
.
On
discharge
patient
has
been
advised
to
visit
higher
centre
for
further
diagnostic
work
up
and
enzyme
replacement
therapy
.
Suspicion
of
Fabry
disease
in
teenager
males
presenting
with
symptoms
of
burning
pain
in
extremities
may
lead
to
early
diagnosis
and
treatment
of
this
condition
before
occurrences
of
complications
.
