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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.
Summary: 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.
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http://dx.doi.org/10.1007/s11892-025-01602-5 | DOI Listing |
J Surg Case Rep
September 2025
Department of Plastic and Reconstructive Surgery, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, Cambridgeshire, United Kingdom.
Human immunodeficiency virus (HIV)-associated lipodystrophy is a well-recognized complication of long-term antiretroviral therapy (ART), characterized by abnormal fat distribution. In the head and neck, it typically present as an obtuse heavy neck combined with accelerated midfacial atrophy, causing significant aesthetic concerns and psychosocial distress. Conventional treatments, including ART modifications, have limited effectiveness, and changes are often irreversible.
View Article and Find Full Text PDFbioRxiv
August 2025
Neuroimmunology Section, Laboratory of Neurological Infections and Immunity (LNII), Rocky Mountain Laboratories (RML), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Hamilton, MT, USA.
Genetic mutations affecting proteasome function can result in multi-organ diseases, such as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. Neurological symptoms associated with CANDLE suggest that proteasomal mutations may impact neuronal development and/or function. We generated cerebral organoids (COs) from CANDLE patient induced pluripotent stem cells (iPSCs), which exhibited impaired neuronal development when compared to COs from healthy control iPSCs.
View Article and Find Full Text PDFCurr Diab Rep
September 2025
Metabolism, Endocrinology and Diabetes (MEND) Division, Internal Medicine Department, University of Michigan, 2800 Plymouth Road Building 25, Room 3696, Ann Arbor, MI, 48105, USA.
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.
JCEM Case Rep
October 2025
Medical Clinic Department, Nutrology and Diabetes Unit, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-913, Brazil.
We describe our 8-year clinical experience with metreleptin in a Brazilian adult female patient with congenital generalized lipodystrophy type 2 (due to a mutation in the gene) and severe insulin resistance. The patient was initially treated with antidiabetic medications due to the unavailability of metreleptin. Metreleptin was initiated at age 20 years.
View Article and Find Full Text PDFJ Int Med Res
August 2025
Department of Plastic and Aesthetic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, and Peking Union Medical College, China.
Subcutaneous panniculitis-like T-cell lymphoma is a rare type of T-cell lymphoma that causes multiple painless subcutaneous nodules over the body. Patients with subcutaneous panniculitis-like T-cell lymphoma may develop facial lipoatrophy that causes disfigurement. We report the case of a 53-year-old female patient with subcutaneous panniculitis-like T-cell lymphoma and severe facial lipoatrophy who underwent three sessions of autologous fat grafting.
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