Classification and main clinical features of lipodystrophies
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 |