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Table 1.

Classification and main clinical features of lipodystrophies

Transmission Protein encoded by the altered gene or causal agent Age at onset lipodystrophy Adipose distribution Clinical and Biological parameters
Genetic Generalized
BSCL1
BSCL2
BSCL3
AR
AR
AR
AGPAT2
Seipin
Caveolin 1
{ Birth or early infancy { Complete lipoatrophy { Acanthosis nigricans, Dyslipidemia, Diabetes
Partial
FPLD2

Metabolic laminopathy
AD

Generally AD
Lamin A/C

Lamin A/C
Puberty

Puberty
Limbs and buttocks lipoatrophy, increased fat in the face and neck
Mild or absent lipodystrophy
{Acanthosis nigricans, Dyslipidemia, Diabetes
Partial
FPLD3
AD PPARγ Puberty Lower body lipoatrophy Hypertension
Acanthosis nigricans
Dyslipidemia
Diabetes
Partial
AKT2-linked
AD AKT2/PKB Partial lipodystrophy Hypertension
Acanthosis nigricans
Diabetes
Acquired Generalized
Lawrence syndrome
Unknown
Sometimes autoimmune disorders
Childhood or adulthood Complete lipoatrophy Sometimes panniculitis
Acanthosis nigricans
Dyslipidemia
Diabetes
Partial
Barraquer-Simmons syndrome
Unknown
Lamin B2 proposed but not confirmed
Adolescence or early adulthood Upper body lipoatrophy
Lower body fat accumulation
Uncommon metabolic alterations
Sometimes low C3 and membranoproliferative glomerulonephritis
Generalized or partial
HIV-related
Some antiretroviral drugs: stavudine, zidovudine, first generation protease inhibitors Generally adulthood Peripheral lipoatrophy
Central lipoatrophy or fat accumulation
Dyslipidemia
Sometimes diabetes
Partial
related to hypercorticism
Endogenous or exogenous excess cortisol Generally adulthood Lower body lipoatrophy
Upper body fat accumulation
Dyslipidemia
Often diabetes

AR: autosomal recessive, AD: autosomal dominant

BSCL: Berardinelli Seip congenital lipodystrophy, FPLD: Familial partial lipodystophy, HIV: human immunodeficiency virus

Endocr Dev. 2010; 19: 1–20.
Published online 2010 June 15. doi: 10.1159/000316893.