European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

@article{semple2026european,
  title = {{European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy}},
  author = {Robert K. Semple and Martin Wabitsch and Baris Akinci and Saif Alyaarubi and Marjoleine F. Broekema and Rebecca J. Brown and Giovanni Ceccarini and Carolina Cecchetti and Solaf M. Elsayed and Antía Fernández‐Pombo and Alessandra Gambineri and Ingrid M. Jazet and Lotte Kleinendorst and Konstanze Miehle and Elif A. Oral and Flavia Prodam and Ferruccio Santini and David B. Savage and Nadia Shaukat Ali and Ekaterina Sorkina and Magdalena Szopa and Marie‐Christine Vantyghem and Camille Vatier and Corinne Vigouroux and Julia von Schnurbein and David Araújo‐Vilar},
  journal = {Journal of Internal Medicine},
  year = {2026},
  month = sep,
  doi = {10.1111/joim.70157},
  url = {https://doi.org/10.1111/joim.70157},
  note = {CC BY 4.0},
}

TY  - JOUR
TI  - European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy
AU  - Robert K. Semple
AU  - Martin Wabitsch
AU  - Baris Akinci
AU  - Saif Alyaarubi
AU  - Marjoleine F. Broekema
AU  - Rebecca J. Brown
AU  - Giovanni Ceccarini
AU  - Carolina Cecchetti
AU  - Solaf M. Elsayed
AU  - Antía Fernández‐Pombo
AU  - Alessandra Gambineri
AU  - Ingrid M. Jazet
AU  - Lotte Kleinendorst
AU  - Konstanze Miehle
AU  - Elif A. Oral
AU  - Flavia Prodam
AU  - Ferruccio Santini
AU  - David B. Savage
AU  - Nadia Shaukat Ali
AU  - Ekaterina Sorkina
AU  - Magdalena Szopa
AU  - Marie‐Christine Vantyghem
AU  - Camille Vatier
AU  - Corinne Vigouroux
AU  - Julia von Schnurbein
AU  - David Araújo‐Vilar
PY  - 2026
DA  - 2026/09/01
JO  - Journal of Internal Medicine
DO  - 10.1111/joim.70157
UR  - https://doi.org/10.1111/joim.70157
AB  - 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.
SN  - 0954-6820
SN  - 1365-2796
ER  -