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Review
. 2025 Sep 2;25(1):47.
doi: 10.1007/s11892-025-01603-4.

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

Donatella Gilio  1   2 , Maria Foss-Freitas  1 , Elif A Oral  3
Affiliations
Review

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

Donatella Gilio et al. Curr Diab Rep. .

Abstract

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

Recent findings: 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.

Keywords: Adipose tissue; Insulin resistance; Leptin; Lipodystrophy; Metabolic abnormalities; Phenotype.

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Conflict of interest statement

Declarations. Human and Animal Rights and Informed Consent: This article does not contain any studies with human or animal subjects performed by any of the authors. Conflict of interest: Dr. Elif A. Oral In the lipodystrophy space consults with and receives clinical trial and grant support from Amryt Pharmaceuticals now part of Chiesi, Regeneron Pharmaceuticals and Ionis Pharmaceuticals. She consults with Third Rock Ventures (now formed Marea Therapeutics) and Rejuvenate Inc. Grant money from PTC Therapeutics was also received in the last 2 years. She also has IP rights to metreleptin manufactured by Amryt Pharmaceuticals, now part of Chiesi and is entitled to royalty payments. Unrelated to lipodystrophy, Dr. Oral has ongoing clinical trial support from Novo Nordisk, Rhythm Pharmaceuticals, and Morphic Medical (formerly GI Dynamics). The other authors report no conflict of interest.

Figures

Fig. 1
Fig. 1
A clinical algorithm for approaching a patient presenting with suspected lipodystrophy
See this image and copyright information in PMC

References

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    1. Ajluni N, Dar M, Xu J, Neidert AH, Oral EA. Efficacy and safety of metreleptin in patients with partial lipodystrophy: lessons from an expanded access program. J Diabetes Metab 2016;7(3). - PMC - PubMed

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