ArticleDiabetes2023
Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy.
Article in Diabetes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Effect of metreleptin treatment in congenital generalized lipodystrophy: a retrospective analysis from the MENA region.Journal of endocrinological investigation · 2026Observational
- Lipodystrophy in Central Asia: A Regional Literature Review with a Case Series of Congenital and Acquired Generalized Lipodystrophy.Metabolites · 2026Article
- Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.Cureus · 2026Article
- Clinical Features, Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy (Barraquer-Simons Syndrome).The Journal of clinical endocrinology and metabolism · 2025Observational
- Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.Diabetology & metabolic syndrome · 2025Review
- "Seipin mediates Perilipin-1 recruitment to lipid droplets to preserve human adipocyte identity".bioRxiv : the preprint server for biology · 2025Article
- Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment.Current diabetes reports · 2025Review
- Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.Current diabetes reports · 2025Review
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- Acquired Generalized Lipodystrophy as an Adverse Event of Combined Immune Checkpoint Inhibitor Therapy.JCEM case reports · 2025Article
- A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.Frontiers in endocrinology · 2025Review
- The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions.Frontiers in endocrinology · 2025Review
- Perilipin-1 autoantibodies are a robust marker of acquired lipodystrophy and may precede clinical detection.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025Article
- Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey.Orphanet journal of rare diseases · 2024Article
- Aire in Autoimmunity.Annual review of immunology · 2024Review
- A Novel Subtype of Acquired Generalized Lipodystrophy Associated With Subcutaneous Panniculitis-Like T-cell Lymphoma.JCEM case reports · 2024Article
- Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.Orphanet journal of rare diseases · 2024Article
- A rapid action plan to improve diagnosis and management of lipodystrophy syndromes.Frontiers in endocrinology · 2024Review
- Validation of a murine proteome-wide phage display library for identification of autoantibody specificities.JCI insight · 2023Article
- Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study.Journal of clinical medicine · 2023Article
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
Abstract
Acquired generalized lipodystrophy (AGL) is a rare condition characterized by massive loss of adipose tissue through the body, causing severe metabolic complications. Autoimmune destruction of adipocytes is strongly suspected based on the frequent association of AGL with autoimmune disorders. In 2018, autoantibodies against perilipin 1 (PLIN1) were identified in three patients with autoimmune-associated AGL. However, the pathogenic mechanism and clinical impact of anti-PLIN1 remain unsolved. The prevalence of anti-PLIN1 autoantibodies in an AGL cohort of 40 patients was 50% (20 of 40). Among positive patients, 10 had the autoimmune variety and 10 had panniculitis-associated AGL. The IgG isotype was predominant, although some IgM antibodies were detected. Epitope-mapping studies did not identify a single, major epitope. Instead, autoantibodies typically bound to several different peptides, among which the central (233-405) domain was detected in all antibody-positive patients, for both IgG and IgM autoantibodies. In-depth epitope mapping indicated that anti-PLIN1 autoantibodies predominantly recognize the αβ-hydrolase domain containing 5 (ABHD5) binding site (383-405). Autoantibodies dose-dependently blocked the binding of PLIN1 to ABHD5 and caused a dislocation of ABHD5 toward the cytosol, leading to an increase in lipolysis and lipase activities. Finally, anti-PLIN1 titers significantly correlated with the amount of fat loss, metabolic control impairment, and severity of liver injury. Our data strongly support that anti-PLIN1 autoantibodies are a diagnostic biomarker and a cause of lipodystrophy in patients with AGL.
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