Abstract
Purpose
The differential diagnosis of lipodystrophy involves other disorders characterized by severe fat loss and may be sometimes challenging. Owing to the rarity of lipodystrophy, it is relevant to search for tools and assays that differentiate it from other diseases that may mimic it. We conducted a study on leptin and high molecular weight (HMW) adiponectin serum concentrations in a series of patients diagnosed with lipodystrophy and compared them with those found in anorexia nervosa, one of the illnesses that may be cause of a missed diagnosis of lipodystrophy.
Methods
Leptin and HMW adiponectin serum concentrations were measured in six patients diagnosed with generalized lipodystrophy (GL), six with progeroid syndromes (PS), 13 with familial partial lipodystrophy type 1 (FPLD1, Kobberling syndrome), 10 with familial partial lipodystrophy type 2 (FPLD2, Dunnigan syndrome), 18 with acquired partial lipodystrophy (APL) and 12 affected by anorexia nervosa (AN). Measurements were compared to those obtained in 12 normal weight healthy subjects.
Results
Serum leptin concentrations were reduced to a similar degree in GL, PS and AN, proportionally to the extent of fat loss. Serum concentrations of HMW adiponectin were found extremely low in patients with GL and PS, while comparable to normal weight subjects in patients with AN.
Conclusion
Serum HMW adiponectin can be regarded as a useful tool to discriminate between generalized lipodystrophy syndromes (including PS) and AN.
Data availability
Some or all data sets generated during and/or analyzed during the present study are not publicly available but are available from the corresponding author on reasonable request.
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Acknowledgements
The authors thank patients for their availability to participate in this report. The Obesity and Lipodystrophy Center at the University Hospital of Pisa is part of the European Consortium of Lipodystrophies, the European Reference Network for Rare Endocrine Conditions (EndoERN Project ID No 739572) and European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN-Project ID No 739543). EndoERN is co-funded by the European Union within the framework of the 3rd Health Program. EndoERN is supported by the European Society of Endocrinology and the European Society for Pediatric Endocrinology. This research was funded by the Italian Ministry of University and Research Grants PRIN 2020NCKXBR (to GC), entitled ‘Suscettibilita alle malattie infettive nell’obesita: una valutazione endocrina, traslazionale e sociologica (SIDERALE)’.
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GC has received fees for consulting and/or received travel funds or participated in studies from the following companies, which are involved with lipodystrophy and/or diabetes: Aegerion/Amryt Pharmaceuticals, Novo-Nordisk, and Rhythm Pharmaceuticals. SM and CP received travel funds from the following company, which was involved with lipodystrophy: Amryt Pharmaceuticals. FS has worked as a consultant, participated in studies, and/or received travel funds from the following companies, which are involved with lipodystrophy and/or diabetes: Aegerion/Amryt, Novo Nordisk, Lilly, Bruno Pharma, and Pfizer. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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Ceccarini, G., Pelosini, C., Paoli, M. et al. Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa. J Endocrinol Invest (2024). https://doi.org/10.1007/s40618-024-02308-3
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DOI: https://doi.org/10.1007/s40618-024-02308-3