Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment

The goal of this review is to address the challenges in diagnosing and managing lipodystrophy syndromes.

Clinical and metabolic assessments, along with genetic analyses, are essential for tailoring medical care and providing appropriate genetic counseling. Efforts are underway to develop more objective diagnostic tools using imaging techniques or novel biomarkers. Leptin therapy has been a significant breakthrough for generalized lipodystrophy treatment; however, more effective treatments are still needed for partial and acquired forms. While gene editing and transcript modification strategies are being explored for specific forms of lipodystrophy, reducing the burden on adipocytes by lowering caloric intake remains a fundamental approach across all forms of the condition. As supporting data emerge, agents that reduce caloric intake may become integral to treatment algorithms. This review offers practical guidance for clinicians managing patients with lipodystrophy, highlighting advances in diagnosis, treatment, and ongoing challenges in clinical care.