A case of congenital partial lipodystrophy without lamin A/C and PPARγ mutations (Köbberling type or variety): A long-term follow-up regarding the efficacy of thiazolidinediones (pioglitazone)

Complex genotype/phenotype relationships have been reported in congenital partial lipodystrophy. The patient was a 33-year-old female with progeroid features and hyperinsulinemia, insulin resistance associated with metabolic abnormalities including not only diabetes, hypertension, fatty liver, hirsutism, polycystic ovary syndrome, acanthosis nigricans, as well as a also short stature and a sensorineural deafness. Her body fat distribution was the characteristic pattern of "partial lipodystrohy" which showed a generalized subcutaneous fat loss, but an excessive accumulation of intraabdominal fat Low fasting plasma leptin and adiponectin levels were observed. No Lamin A/C or PPARγ mutations were identified. Normal insulin receptor binding and an abnormality in the post IRS-1 signaling pathway were found by a primary fibroblast culture. She was tentatively diagnosed to have either the sporadic Köbberling type or a variety of congenital [familial]partial lipodystropy (referred to in publications as the "FPLD1"). We herein present our long-term experience of treating this case with pioglitazone. Both subcutaneous and visceral fat increased following this treatment in addition the leptin and adiponectin levels also increased. An increased insulin sensitivity and improvements in both glucose intolerance and liver dysfunction were also observed during the follow-up period. This case therefore demonstrated the benefits of PPARγ-agonists, pioglitazone on metabolic abnormalities in a patient with Köbberling type of FPLD without any adverse side effects. A large series of pioglitazone treatment cases should therefore be studied to elucidate the efficacy of this treatment regimen for genetically different types of FPLD.