Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism
Maria Cristina Foss‐Freitas, Donatella Gilio, ELIF A. ORAL
Abstract
PURPOSE OF REVIEW: This review aims to introduce the latest developments in etiology and classification of lipodystrophy syndromes. RECENT FINDINGS: Recent developments in genetic assessment with deeper sequencing have increased the number of specific etiologies of lipodystrophy with known single-gene associations. Despite this, more than 50% of patients diagnosed with partial and most of acquired lipodystrophy do not have a precise disease mechanism. Regardless of the cause of lipodystrophy, patients present with multiple important comorbidities. Complications impact not only metabolic endpoints but the entire body, akin to what happens in extreme obesity. As research advances, new subtypes of lipodystrophy are being identified, with recent studies shifting focus from adipocyte differentiation to the role of cellular structures, survival pathways, and immune regulation in the disease etiology. These metabolic diseases pose significant clinical challenges, underscoring the need for further research to understand the mechanisms more precisely, identify new subtypes, and develop targeted therapies.