Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

This case report focuses on a young female patient with familial partial lipodystrophy, a rare genetic disorder causing metabolic dysfunction-associated steatotic liver disease (MASLD). The diagnosis was delayed by 12 years, leading to severe complications. Conventional treatments were ineffective, but metreleptin, a leptin replacement therapy, significantly improved her metabolic parameters and liver function. The report emphasizes the importance of recognizing rare causes of MASLD, as specific treatments like metreleptin can prevent serious complications, and highlights the need for a multidisciplinary approach in managing these complex cases.