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Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.
[werner syndrome]
Lipodystrophies
are
an
immense
group
of
genetic
or
acquired
metabolic
disorders
that
are
characterized
by
varying
degrees
of
body
fat
loss
and
in
some
instances
localized
accumulation
of
subcutaneous
fat
.
Lipodystrophies
are
often
tightly
linked
with
profound
metabolic
complications
;
this
strong
bond
emphasizes
and
reinforces
the
significance
of
adipose
tissue
as
a
dynamic
endocrine
organ
.
The
extent
of
fat
loss
determines
the
severity
of
associated
metabolic
complications
such
as
diabetes
mellitus
,
hypertriglyceridemia
and
hepatic
steatosis
.
The
lipodystrophies
can
be
divided
into
generalized
,
partial
or
local
,
depending
on
the
degree
and
locality
of
the
observable
fat
loss
;
moreover
,
the
generalized
and
partial
divisions
can
be
partitioned
further
into
inherited
or
acquired
forms
.
The
major
genetic
factors
in
the
generalized
forms
of
the
lipodystrophies
,
particularly
Congenital
generalized
lipodystrophy
(
CGL
)
-
Berardinelli-
Seip
syndrome
,
are
the
AGPAT
2
,
BSCL
2
,
caveolin
1
(
CAV
1
)
and
polymerase-
I
-
and-transcriptrelease
factor
(
PTRF
)
genes
.
In
the
acquired
forms
,
genes
such
as
LMNA
,
PPARG
,
CIDEC
(
cell-death-inducing
DNA
fragmentation
factor
a-like
effector
c
)
and
PLIN
1
are
heavily
involved
in
familial
partial
lipodystrophy
(
FPLD
)
type
2
(
also
known
as
the
Dunnigan-
Variety
)
and
WRN
along
with
RECQL
5
in
Werner
Syndrome
(
WS
)
.
Autoimmune
causes
are
particularly
noted
in
acquired
partial
lipodystrophy
(
APL
)
-
Barraquer-
Simons
syndrome
and
in
AGL
-
Lawrence
syndrome
;
panniculitis
has
been
shown
to
have
a
substantial
role
in
the
former
as
well
as
in
other
forms
of
localized
lipodystrophies
.
Patients
with
human
immunodeficiency
virus
(
HIV
)
exposed
to
protease
inhibitors
,
nucleoside
reverse
transcriptase
inhibitors
(
NRTIs
)
(
for
example
,
zidovudine
and
stavudine
)
or
non-nucleoside
reverse
transcriptase
inhibitors
(
NNRTIs
)
(
for
example
,
efavirenz
)
while
undergoing
Highly
Active
Antiretroviral
Therapy
(
HAART
)
have
led
to
the
current
most-prevalent
form
of
the
lipodystrophies
:
lipodystrophy
in
HIV-infected
patients
(
LD-HIV
)
and
HAART-associated
lipodystrophy
syndrome
(
HALS
)
.
Diseases
Validation
Diseases presenting
"associated metabolic complications such as diabetes"
symptom
werner syndrome
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