{
  "abstract": "Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions. Despite major advances in understanding adipose tissue biology and in human genetic technologies, diagnosis of lipodystrophy is still commonly delayed or missed. Conversely, increasing use of next‐generation sequencing has led to proliferation of proposed new genetic causes of lipodystrophy with variable supporting evidence. To address these challenges, an international expert working group from the European Consortium for Lipodystrophies first developed a consensus definition of lipodystrophy as deficient development and/or inadequate maintenance of adipose tissue not attributable to nutritional deprivation or a systemic catabolic state. Anatomical adipose deficiency alone is generally insufficient for diagnosis, with evidence of adipose tissue dysfunction or pathology also usually required. Building on this definition, a framework for evaluating candidate monogenic lipodystrophy syndromes is suggested, based on the strength of human phenotypic, genetic, and biological evidence. Primacy was assigned to direct evidence from affected individuals, with genetic and biological evidence considered supportive but not determinative. This approach accommodates both the variable penetrance and expressivity characteristic of many lipodystrophy syndromes and potential discrepancies between human observations and experimental models. Although the proposed definition is applicable across all forms of lipodystrophy, the classification system described here is restricted to monogenic disorders. Together, these tools aim to improve clinical recognition, promote diagnostic consistency, and provide a robust and adaptable framework for evaluating emerging gene–disease associations in lipodystrophy.",
  "abstract_shown": true,
  "affiliations": [
    "Institute for Neuroscience and Cardiovascular Research and Institute of Genetics and Cancer The University of Edinburgh Edinburgh UK",
    "Division of Pediatric Endocrinology and Diabetes Department of Pediatrics and Adolescent Medicine ENDO‐ERN Center for Rare Endocrine Diseases Ulm University Medical Center Ulm Germany",
    "Department of Technological Research Izmir Biomedicine and Genome Center Izmir Turkey",
    "Pediatric Endocrinology Oman Medical Specialty Board Muscat Oman",
    "Department of Human Genetics Amsterdam University Medical Center, University of Amsterdam Amsterdam the Netherlands",
    "National Institute of Diabetes and Digestive and Kidney Diseases National Institutes of Health Bethesda Maryland USA",
    "Obesity and Lipodystrophy Center Endocrinology Unit ENDO‐ERN Center for Rare Endocrine Diseases University Hospital of Pisa Pisa Italy",
    "Division of Endocrinology and Diabetes Prevention and Care Department of Medical and Surgical Sciences ENDO‐ERN Center for Rare Endocrine Diseases IRCCS Azienda Ospedaliero‐Universitaria di Bologna Bologna Italy",
    "Unit of Endocrinology and Metabolic Diseases G.B. Morgagni – L.Pierantoni Hospital Forlì Italy",
    "Medical Genetics Department Faculty of Medicine Ain Shams University Cairo Egypt",
    "UETeM‐Molecular Pathology Group Department of Psychiatry, Radiology, Public Health, Nursing and Medicine Instituto de Investigación Sanitaria Santiago de Compostela–Center for Research in Molecular Medicine and Chronic Diseases (IDIS–CIMUS) University of Santiago de Compostela Santiago de Compostela Spain",
    "Division of Endocrinology Department of Medicine Leiden University Medical Center Leiden the Netherlands",
    "Medical Department III—Endocrinology, Nephrology, Rheumatology University of Leipzig Medical Center Leipzig Germany",
    "Caswell Diabetes Institute and Metabolism Endocrinology and Diabetes Division Department of Internal Medicine University of Michigan Medical School Ann Arbor Michigan USA",
    "Unit of Endocrinology Department of Health Sciences University of Eastern Piedmont Novara Italy",
    "University of Cambridge Metabolic Research Laboratories Addenbrooke’s Hospital Cambridge UK",
    "Al Jalila Children's Speciality Hospital, Dubai Health Dubai United Arab Emirates",
    "Clinical Research Facility The Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK",
    "Department of Metabolic Diseases Jagiellonian University Medical College Krakow Poland",
    "Department of Endocrinology, Diabetology, Oncology and Metabolism Competence Center of Rare Diseases of Insulin‐Secretion and Insulin‐Sensitivity Lille University Hospital, PRISIS; INSERM U1190 Lille France",
    "APHP, Saint‐Antoine University Hospital National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity Department of Endocrinology, Diabetology and Reproductive Endocrinology Endo‐ERN Assistance Publique Consortium and Sorbonne Université, Saint‐Antoine Research Center, Inserm UMR_S938 Paris France"
  ],
  "article_type": "review article",
  "arxiv": null,
  "author_total": 26,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Robert K. Semple",
      "orcid": "0000-0001-6539-3069"
    },
    {
      "affs": [
        1
      ],
      "name": "Martin Wabitsch",
      "orcid": "0000-0001-6795-8430"
    },
    {
      "affs": [
        2
      ],
      "name": "Baris Akinci",
      "orcid": "0000-0002-8634-4845"
    },
    {
      "affs": [
        3
      ],
      "name": "Saif Alyaarubi",
      "orcid": "0000-0003-0228-1304"
    },
    {
      "affs": [
        4
      ],
      "name": "Marjoleine F. Broekema",
      "orcid": "0000-0002-1832-1262"
    },
    {
      "affs": [
        5
      ],
      "name": "Rebecca J. Brown",
      "orcid": "0000-0002-2589-7382"
    },
    {
      "affs": [
        6
      ],
      "name": "Giovanni Ceccarini",
      "orcid": "0000-0003-0701-642X"
    },
    {
      "affs": [
        7,
        8
      ],
      "name": "Carolina Cecchetti",
      "orcid": "0009-0004-3611-5878"
    },
    {
      "affs": [
        9
      ],
      "name": "Solaf M. Elsayed",
      "orcid": "0000-0003-3054-9929"
    },
    {
      "affs": [
        10
      ],
      "name": "Antía Fernández‐Pombo",
      "orcid": "0000-0002-1268-7538"
    },
    {
      "affs": [
        7
      ],
      "name": "Alessandra Gambineri",
      "orcid": "0000-0003-2242-6734"
    },
    {
      "affs": [
        11
      ],
      "name": "Ingrid M. Jazet"
    },
    {
      "affs": [
        4
      ],
      "name": "Lotte Kleinendorst",
      "orcid": "0000-0001-9106-7478"
    },
    {
      "affs": [
        12
      ],
      "name": "Konstanze Miehle",
      "orcid": "0000-0002-2311-556X"
    },
    {
      "affs": [
        13
      ],
      "name": "Elif A. Oral",
      "orcid": "0000-0002-9171-1144"
    },
    {
      "affs": [
        14
      ],
      "name": "Flavia Prodam",
      "orcid": "0000-0001-9660-5335"
    },
    {
      "affs": [
        6
      ],
      "name": "Ferruccio Santini",
      "orcid": "0000-0002-1706-0822"
    },
    {
      "affs": [
        15
      ],
      "name": "David B. Savage"
    },
    {
      "affs": [
        16
      ],
      "name": "Nadia Shaukat Ali",
      "orcid": "0000-0002-6006-0668"
    },
    {
      "affs": [
        17
      ],
      "name": "Ekaterina Sorkina"
    },
    {
      "affs": [
        18
      ],
      "name": "Magdalena Szopa",
      "orcid": "0000-0003-4184-419X"
    },
    {
      "affs": [
        19
      ],
      "name": "Marie‐Christine Vantyghem",
      "orcid": "0000-0002-9369-0463"
    },
    {
      "affs": [
        20
      ],
      "name": "Camille Vatier"
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    {
      "affs": [
        20
      ],
      "name": "Corinne Vigouroux",
      "orcid": "0000-0002-8181-4721"
    },
    {
      "affs": [
        1
      ],
      "name": "Julia von Schnurbein",
      "orcid": "0000-0001-9918-664X"
    },
    {
      "affs": [
        10
      ],
      "name": "David Araújo‐Vilar",
      "orcid": "0000-0003-2852-7851"
    }
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  "bibtex": "https://research.draconitic.com/paper/7k9qdyrzmbcbh.bib",
  "cited_by": 0,
  "doi": "10.1111/joim.70157",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13741812/",
  "id": "7k9qdyrzmbcbh",
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    "1365-2796"
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  "landing_url": "https://doi.org/10.1111/joim.70157",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
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  "native_subjects": [
    [
      "heading",
      "Review"
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      "2737|Adipose Tissue and Metabolism"
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  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/joim.70157",
  "pmcid": "PMC13741812",
  "pmid": "42681552",
  "published": "2026-09-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/7k9qdyrzmbcbh.ris",
  "sources": [
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      "first_seen": "2026-11-10T12:22:47Z",
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      "url": "https://doi.org/10.1111/joim.70157"
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2737|Adipose Tissue and Metabolism",
      "subfield": "physiology"
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  ],
  "title": "European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy",
  "title_text": "European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy",
  "type": "peer-reviewed",
  "updated_at": "2026-11-10T12:22:47Z",
  "url": "https://research.draconitic.com/paper/7k9qdyrzmbcbh",
  "venue": "Journal of Internal Medicine",
  "versions": []
}