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[A rare cause of edema: sporadic lymphangioleiomyomatosis].
[lymphangioleiomyomatosis]
A
45
-
year
-old
woman
presented
with
marked
edema
of
both
lower
extremities
over
6
weeks
for
a
nephrological
work-up
;
she
had
gained
8
kg
of
body
weight
.
Voiding
was
asymptomatic
and
she
had
a
stable
diuresis
.
The
patient
took
oestrogens
for
contraception
over
10
years
.
Blood
pressure
was
normotensive
.
Serum-creatinine
was
0
.
8
mg
/
dl
;
a
slight
microalbuminuria
was
noted
.
Left
and
right
ventricular
systolic
function
were
normal
.
DIAGNOSTIC
FINDINGS
,
TREATMENT
AND
CLINICAL
COURSE
:
Computed
tomography
of
the
abdomen
revealed
a
hemodynamically
relevant
obstruction
of
the
venous
blood
flow
or
the
lymphatic
vessels
as
cause
for
the
edema
of
both
legs
.
Masses
of
lymphangioleiomyomas
located
around
the
v
.
cava
inferior
were
documented
.
Biopsy
of
the
masses
proved
a
massive
proliferation
of
smooth
muscle
cells
and
epitheloid
cells
with
an
immunohistochemically
typical
staining
.
Furthermore
,
CT
revealed
multiple
pulmonary
cysts
in
both
lungs
,
results
which
are
pathognomic
for
lymphangioleiomyomatosis
(
LAM
)
.
In
our
patient
,
the
structural
impairment
of
the
lungs
was
not
substantiated
clinically
,
i
.
e
.
she
had
only
slight
dyspnoe
during
exertion
.
By
mild
diuretic
treatment
with
HCT
and
fluid
control
,
a
moderate
regression
of
the
edema
was
achieved
.
At
present
,
the
mTOR
inhibitor
rapamycin
as
antiproliferative
treatment
is
considered
to
reduce
the
retroperitoneal
LAM
-related
masses
on
an
individual
basis
.
LAM
is
a
rare
genetically
determined
progressive
disease
occurring
frequently
in
women
in
childbearing
age
.
LAM
is
characterized
by
a
proliferation
of
smooth
muscle
cells
,
lymphangioma
,
renal
angiomyolipoma
,
pulmonary
cysts
and
progressive
destruction
of
lung
parenchyma
.
Refractory
edema
can
result
from
an
obstruction
of
the
venous
blood
and
lymphatic
flow
by
lymphangioma
masses
located
paracaval
,
which
was
the
impressive
and
first
clinical
feature
of
LAM
in
our
case
report
.
Diseases
Validation
Diseases presenting
"edema"
symptom
acute rheumatic fever
adrenomyeloneuropathy
aniridia
cadasil
canavan disease
classical phenylketonuria
coats disease
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
erythropoietic protoporphyria
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
inclusion body myositis
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
pleomorphic liposarcoma
systemic capillary leak syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
This symptom has already been validated