Diagnosis and treatment of lipodystrophy: a step-by-step approach
Open accessAbstract
AIM: Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes mellitus and dyslipidemia. PURPOSE: To describe the clinical presentation of known types of lipodystrophy, and suggest specific steps to recognize, diagnose and treat lipodystrophy in the clinical setting. METHODS: Based on literature and in our own experience, we propose a stepwise approach for diagnosis of the different subtypes of rare lipodystrophy syndromes, describing its more frequent co-morbidities and establishing the therapeutical approach. RESULTS: Lipodystrophy is classified as genetic or acquired and by the distribution of fat loss, which can be generalized or partial. Genes associated with many congenital forms of lipodystrophy have been identified that may assist in diagnosis. Because of its rarity and heterogeneity, lipodystrophy may frequently be unrecognized or misdiagnosed, which is concerning because it is progressive and its complications are potentially life threatening. A basic diagnostic algorithm is proposed. Effective management of lipodystrophy includes lifestyle changes and aggressive, evidence-based treatment of comorbidities. Leptin replacement therapy (metreleptin) has been found to improve metabolic parameters in many patients with lipodystrophy. Metreleptin is approved in the United States as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy and has been submitted for approval in Europe. CONCLUSIONS: Here, we describe the clinical presentation of known types of lipodystrophy, present an algorithm for differential diagnosis of lipodystrophy, and suggest specific steps to recognize and diagnose lipodystrophy in the clinical setting.
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Acquired forms of partial lipodystrophy, including Barraquer-Simons syndrome, involve autoimmune mechanisms and cephalocaudal fat loss.
“Acquired forms, including Barraquer–Simons syndrome, involve autoimmune mechanisms and cephalocaudal fat loss.”
From Precision obesity medicine: A phenotype-guided framework for pharmacologic therapy across the lifespan (2025) · cites this paper as [151]
In “Step 3.2: Evaluation of PLD,” the paper identifies Barraquer–Simons syndrome as acquired partial lipodystrophy and describes cephalocaudal fat loss. It calls the cause unknown and autoimmune involvement only possible, so the claim states that mechanism more firmly than the source does. (LLM, conf=0.88)
Experimental — accuracy not yet measuredPartial lipodystrophy syndromes are rare disorders marked by selective loss of subcutaneous fat, severe insulin resistance, hypertriglyceridemia, and hepatic steatosis.
“Partial lipodystrophy Syndromes are rare disorders marked by selective loss of subcutaneous fat, severe insulin resistance, hypertriglyceridemia, and hepatic steatosis.”
From Precision obesity medicine: A phenotype-guided framework for pharmacologic therapy across the lifespan (2025) · cites this paper as [151]
The Introduction (page unavailable) describes lipodystrophy syndromes as rare and links fat loss to insulin resistance, hypertriglyceridemia, and hepatic steatosis. The PLD evaluation section describes selective subcutaneous fat loss, but the Conclusions say these disorders range from mild to severe. The source therefore does not support characterizing partial lipodystrophy syndromes generally as marked by severe insulin resistance. (LLM, conf=0.84)
Experimental — accuracy not yet measuredGenetic forms of partial lipodystrophy, such as familial partial lipodystrophy types 1-3, typically arise from LMNA, PPARG, or other adipocyte gene mutations, with onset in adolescence or early adulthood.
“Genetic forms, such as familial partial lipodystrophy types 1–3, typically arise from LMNA, PPARG, or other adipocyte gene mutations, with onset in adolescence or early adulthood.”
From Precision obesity medicine: A phenotype-guided framework for pharmacologic therapy across the lifespan (2025) · cites this paper as [151]
Table 1 identifies LMNA for type 2 familial partial lipodystrophy (FPLD) and PPARG for type 3, but lists the genes for type 1 as unknown. The ‘Step 3.2: Evaluation of PLD’ section says type 2 fat loss begins around puberty and type 3 lipoatrophy appears in adulthood; it does not specify early adulthood for type 3. Thus the genetic and onset descriptions are supported for some, but not all, of types 1–3. (LLM, conf=0.88)
Experimental — accuracy not yet measuredHIV-associated lipodystrophy, linked to antiretroviral therapy, presents with variable lipoatrophy and central adiposity, often sharing similar metabolic derangements.
“HIV-associated lipodystrophy, linked to antiretroviral therapy, presents with variable lipoatrophy and central adiposity, often sharing similar metabolic derangements [150, 151].”
From Precision obesity medicine: A phenotype-guided framework for pharmacologic therapy across the lifespan (2025) · cites this paper as [151]
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Metreleptin treatment of non-HIV lipodystrophy syndromes
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Metreleptin in lipodystrophy: a profile of its use
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Successful long-term use of pioglitazone in Berardinelli–Seip lipodystrophy-associated diabetes
Chaves, C. M., Chaves, M. M., Anselmo, J., & César, R. (2021) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-20-0183 · Cited by 6 · see citing works
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Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes
Díaz‐López, E. J., Sánchez‐Iglesias, S., Castro, A. I., Cobelo-Gómez, S., Prado‐Moraña, T., Araújo‐Vilar, D., & Fernández‐Pombo, A. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25179324 · Cited by 7 · see citing works
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Cecchetti, C., D’Apice, M. R., Morini, E., Novelli, G., Pizzi, C., Pagotto, U., & Gambineri, A. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.675096 · Cited by 5 · see citing works
Fernández‐Pombo, A., Prado‐Moraña, T., Díaz‐López, E. J., Sánchez‐Iglesias, S., Castro, A. I., Cobelo-Gómez, S., & Araújo‐Vilar, D. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12237344 · Cited by 5 · see citing works
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A murine model of BSCL2-associated Celia's encephalopathy
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Self-citationDietary Activation of AMP-Activated Protein Kinase (AMPK) to Treat Insulin Resistance
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SIRT1 Serum Concentrations in Lipodystrophic Syndromes
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Avaliação nutricional e lipodistrofia em pessoas que vivem com HIV
Almada, M. O. R. D. V., Salomão, J. O., de Souza, F. R. F., Oliveira, J. M. P., de Matos, G. X., Acosta, R. J. D. L. T., Silva, M. D. S., & Alves, P. H. B. (2020) · Revista de Enfermagem UFPE on line · doi:10.5205/1981-8963.2020.244530 · Cited by 3 · see citing works
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Self-citationProgressive Approaches in Adipose Radio Imaging: Cancer Utilization and Necessity for Advancements
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- Authors
- Araújo-Vilar, D., & Santini, F.
- Affiliations
- Azienda Ospedaliera Universitaria Pisana (IT)
- Venue
- Journal of Endocrinological Investigation
- Published
- 2018-04-27
- Volume
- 42
- Issue
- 1
- Pages
- 61-73
- ISSN
- 0391-4097 (ISSN-L)
- 1720-8386
- PMC
- PMC6304182
- OpenAlex
- W2802787768
- Cited by
- 194
- References
- 80
- Citations by year
- 2026: 18 · 2025: 23 · 2024: 29 · 2023: 27 · 2022: 27 · 2021: 29 · 2020: 23 · 2019: 14 · 2018: 4
- FWCI
- 2.50
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Endocrinological Investigation (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, cc-by)
- Hispana (submittedVersion, cc-by)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- Repositorio institucional da Universidade de Santiago de Compostela (University of Santiago de Compostela) (submittedVersion, cc-by)
- Funders
- Aegerion
- Topics
- Health Sciences › Medicine › Epidemiology › Adipokines, Inflammation, and Metabolic Diseases
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Regulation of Appetite and Obesity
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- lipodystrophy, leptin deficiency, metreleptin, leptin replacement therapy, congenital lipodystrophy, acquired lipodystrophy, generalized lipodystrophy, partial lipodystrophy, diabetes mellitus, dyslipidemia, differential diagnosis, diagnostic algorithm, metabolic comorbidities, lifestyle management
- MeSH terms
- Diet, Healthy, Adipose Tissue, Humans, Insulin Resistance, Lipodystrophy, Treatment Outcome, Leptin
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