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[Lymphangioleiomyomatosis].
[lymphangioleiomyomatosis]
LAM
is
one
of
the
rare
lung
diseases
.
Approximately
200
-
400
female
patients
are
to
be
expected
in
Germany
.
Only
rare
reports
exist
describing
a
male
LAM
patient
.
LAM
exists
in
two
forms
:
a
spontaneous
mosaic
mutation
(
S-
LAM
)
and
a
germ
line
mutation
resulting
in
a
combination
of
pulmonary
and
systemic
symptoms
called
tuberous
sclerosis
(
TSC-
LAM
)
.
Although
the
influence
of
estrogen
is
not
yet
entirely
recognized
,
pregnancy
and
estrogen
containing
anticonception
will
worsen
the
course
of
the
disease
.
Ten
year
prognosis
of
the
disease
is
well
over
80
%
but
variability
is
large
.
Rapid
progression
exists
.
The
clinical
picture
of
S-
LAM
is
dominated
by
pneumothorax
,
chylous
pleural
effusions
,
dyspnoea
upon
exertion
.
(
HR
)
CT
demonstrates
the
easily
recognizable
and
characteristic
cystic
transformation
of
the
parenchyma
.
The
cellular
sequels
of
the
disease
involve
constant
activation
of
the
mTORC
1
complex
with
protein
synthesis
,
proliferation
,
enzymatic
parenchymal
transformation
,
improved
cellular
survival
and
metastasis
into
the
lungs
most
likely
from
an
extrapulmonary
source
.
Following
extensive
research
on
the
pathologic
activation
of
the
mTORC
1
pathway
,
an
initial
way
of
halting
progression
has
been
found
in
using
mTORC
1
inhibitors
(
Sirolimus
,
Everolimus
)
.
Complimentary
strategies
are
currently
investigated
in
order
to
improve
the
therapeutic
effect
.
These
measures
will
improve
LAM
prognosis
in
the
future
.
Therapy
resistant
LAM
is
a
valid
indication
for
lung
transplantation
.