Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2
Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2
Familial partial lipodystrophic syndromes are characterized by an increase in visceral
 adipose tissue and an atrophy of subcutaneous adipose tissue. They are associated with a
 severe metabolic syndrome especially when linked to the mutation of the R482 codon of the
 LMNA gene (Familial partial lipodystrophy type 2, FPL2). Data in lipodystrophy induced by
 antiretroviral therapy of HIV suggests an increase in the activity of 11β-hydroxysteroid
 dehydrogenase type 1 (11bHSD1). This enzyme reactivates cortisone in cortisol in adipose
 tissues and liver and has associated to obesity and type 2 diabetes mellitus. Hence, the
 hypothesis is that in patients suffering from FPL2 with the R482 codon mutation of the LMNA
 gene, there is an increase in the activity of HSD11B1 which could participate to the
 metabolic phenotype of the disease.
Inclusion Criteria:

 -  Familia partial lipodystrophy type 2 (FPL2) with the R482 codon mutation of the LMNA
 gene

 -  Social insured

 -  Ability to give consent

 Exclusion Criteria:

 -  urinary incontinence or inability to collect urine for 24 hours

 -  moderate and severe kidney insufficiency

 -  hepatic insufficiency

 -  history of hypercortisolism or adrenal insufficiency

 -  treatment interfering with the cortisol metabolism: taking oral or inhaled
 glucocorticoids within the last 6 months

 -  pregnant and lactating woman.