Mohan_2025_J.Assoc.Physicians.India_73_93

We report on an interesting case of familial partial lipodystrophy syndrome (type 6) due to a LIPE gene defect. Lipodystrophy syndromes are characterized by dysfunctional adipose tissue. While there are several types of lipodystrophies, this report is of a case of familial partial lipodystrophy with a LIPE gene mutation, which is very rare. Because the LIPE gene defect was of heterozygous nature, it presented in a milder clinical form. Thanks to genetic testing, we were able to clinch the diagnosis in this case. This case teaches us that we should have a high index of suspicion to pick up such rare cases and to offer genetic testing whenever indicated.