The Journal of the Association of Physicians of India · 2025
Interesting Case of Familial Partial Lipodystrophy Syndrome (Type 6) with LIPE Gene Defect: A Case Report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Mohan Viswanathan, Damle Varun Anil, Patil Akshay Vikas, Lavanya Rajendran, Vijayalakshmi Karthick, Regina Aruldass, Radha Venkatesan
Аннотация
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.