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Everolimus treatment of abdominal lymphangioleiomyoma in five women with sporadic lymphangioleiomyomatosis.
[lymphangioleiomyomatosis]
Lymphangioleiomyomatosis
(
LAM
)
is
a
rare
systemic
disease
of
young
women
arising
from
mutations
in
the
tuberous
sclerosis
complex
(
TSC
)
genes
,
TSC
1
or
TSC
2
.
This
disrupts
the
mammalian
target
of
rapamycin
(
mTOR
)
pathway
,
affecting
cellular
proliferation
and
growth
.
mTOR
inhibitors
are
a
promising
novel
therapy
in
LAM
.
The
mTOR
inhibitor
sirolimus
is
reported
to
produce
resolution
of
lymphatic
abnormalities
in
LAM
,
but
the
efficiacy
of
the
mTOR
inhibitor
everolimus
has
not
been
assessed
.
We
aimed
to
examine
the
efficacy
of
everolimus
on
lymphatic
abnormalities
in
LAM
.
O
pen
-label
treatment
of
five
patients
with
sporadic
LAM
(
sLAM
)
and
abdominopelvic
and
lung
involvement
at
the
outpatient
LAM
clinic
of
a
tertiary
city
teaching
hospital
.
Clinical
data
were
collected
during
treatment
of
the
women
and
included
regular
clinical
reviews
,
everolimus
levels
,
lung
function
and
computed
tomography
assessment
before
and
after
6
months
of
everolimus
treatment
.
Symptoms
and
level
of
resolution
of
lymphangioleiomyomas
.
A
ll
five
women
experienced
significant
shrinkage
or
complete
resolution
of
the
lymphangioleiomyomas
during
treatment
.
In
one
woman
,
cessation
of
everolimus
resulted
in
recurrence
of
symptoms
.
Adverse
events
were
compatible
with
the
known
side-effect
profile
of
everolimus
,
but
overall
the
drug
was
well
tolerated
.
This
is
the
first
report
to
suggest
that
everolimus
has
efficacy
in
the
treatment
of
lymphangioleiomyoma
and
chylous
ascites
in
sLAM
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
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cutaneous mastocytosis
cystinuria
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dracunculiasis
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focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
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inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
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omenn syndrome
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waldenström macroglobulinemia
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x-linked adrenoleukodystrophy
zellweger syndrome
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