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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
"diabetes mellitus"
symptom
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
child syndrome
cholangiocarcinoma
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
malignant atrophic papulosis
neuralgic amyotrophy
pyomyositis
sneddon syndrome
typhoid
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated