Chiquette E, Oral EA, Garg A, Araujo-Vilar D, Dhankhar P. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes. 2017;375–83.

Gonzaga-Jauregui C, Ge W, Staples J, Van Hout C, Yadav A, Colonie R, et al. Clinical and molecular prevalence of lipodystrophy in an unascertained large clinical care cohort. Diabetes. 2020;69:249–58.

Article  CAS  PubMed  Google Scholar 

Akinci B, von Schnurbein J, Araujo-Vilar D, Wabitsch M, Oral EA, Lipodystrophy, Prevalence. Lipodystrophy-Like phenotypes, and diagnostic challenges. Diabetes. American Diabetes Association Inc.; 2024. pp. 1039–42.

Costa DG, Ferreira-Marques M, Cavadas C. Lipodystrophy as a target to delay premature aging. Trends in endocrinology and metabolism. Elsevier Inc.; 2024. pp. 97–106.

Bidault G, Garcia M, Vantyghem MC, Ducluzeau PH, Morichon R, Thiyagarajah K, et al. Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction. Arterioscler Thromb Vasc Biol. 2013;33:2162–71.

Article  CAS  PubMed  Google Scholar 

Mosbah H, Vatier C, Boccara F, Jéru I, Lascols O, Vantyghem MC et al. Looking at new unexpected disease targets in LMNA-Linked lipodystrophies in the light of complex cardiovascular phenotypes: implications for clinical practice. Cells. 2020;9.

Olgun FE, Güler E, Çeleğen MF, Demirçelik MB, Kılıçaslan F, Boztosun B. Early atherosclerosis and conduction defect in a rare case of Dunnigan type Familial partial lipodystrophy. Turk Kardiyoloji Dernegi Arsivi. 2024;52:138–42.

Article  PubMed  Google Scholar 

Van Maldergem L, Magre J, Khallouf TE, Gedde-Dahl T Jr., Delepine M, Trygstad O et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet. 2002/10/04. 2002;39:722–33.

Lima JG, Nobrega LHC, Lima NN, dos Santos MCF, Silva PHD, Maria de Fatima PB et al. Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. PLoS ONE. 2018;13.

Feijó BMXCRR, Mendonça RM, Egito EST, Lima DN, Campos JTA, de Lima M. JG. Coronary arterial calcification in patients with congenital generalised lipodystrophy: A case series. Clin Endocrinol (Oxf). John Wiley and Sons Inc; 2022. pp. 863–6.

Kwapich M, Lacroix D, Espiard S, Ninni S, Brigadeau F, Kouakam C, et al. Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype–genotype correlation. Diabetes Metab. 2019;45:382–9.

Article  CAS  PubMed  Google Scholar 

Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, et al. Type 1 Familial partial lipodystrophy: Understanding the Köbberling syndrome. Endocrine. 2016;54:411–21.

Article  PubMed  Google Scholar 

Adiyaman SC, Altay C, Kamisli BY, Avci ER, Basara I, Simsir IY, et al. Pelvis magnetic resonance imaging to diagnose Familial partial lipodystrophy. J Clin Endocrinol Metab. 2023;108:e512–20.

Article  PubMed  Google Scholar 

Mosbah H, Vatier C, Vigouroux C. Partial lipodystrophy: clinical presentation and treatment. Ann Endocrinol (Paris). 2024;85:197–200.

Article  PubMed  Google Scholar 

Vasandani C, Li X, Sekizkardes H, Brown RJ, Garg A. Phenotypic differences among Familial partial lipodystrophy due to LMNA or PPARG variants. J Endocr Soc. 2022;6.

Bonello-Palot N, Laine M, Cuisset T, Ronchard T, Desgrouas C, Merono F, et al. High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome. Atherosclerosis. 2020;293:86–91.

Article  CAS  PubMed  Google Scholar 

Desgrouas C, Thalheim T, Cerino M, Badens C, Bonello-Palot N. Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans. Cardiovasc Res. Oxford University; 2024. pp. 237–48.

Patel KA, Burman S, Laver TW, Hattersley AT, Frayling TM, Weedon MN. PLIN1 haploinsufficiency causes a favorable metabolic profile. J Clin Endocrinol Metab. 2022;107:E2318–23.

Article  PubMed  PubMed Central  Google Scholar 

Prieur X. Generalized lipodystrophies: clinical characterization and physiopathology. Ann Endocrinol (Paris). 2024;85:195–6.

Article  PubMed  Google Scholar 

Mathur SK, Tiwari P, Gupta S, Gupta N, Nimesh S, Medicherla KM, et al. Genetics of lipodystrophy: can it help in Understanding the pathophysiology of metabolic syndrome? Biomolecules. MDPI AG; 2018.

Koo E, Meral R, Ozer M, Jalal Eldin A, Miller N, Rothberg A et al. MON-104 defining the contribution of weight to the extent of metabolic disease in FPLD: insights from a retrospective matched Case-Control study. J Endocr Soc. 2019;3.

Lima JG, Nobrega LHC, De Lima NN, Do Nascimento Santos MG, Baracho MFP, Jeronimo SMB. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2016;8.

Fourman LT, Lima JG, Simha V, Cappa M, Alyaarubi S, Montenegro R et al. A rapid action plan to improve diagnosis and management of lipodystrophy syndromes. Front Endocrinol (Lausanne). 2024;15.

Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G et al. Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. J Clin Endocrinol Metab [Internet]. 2016;101:2759–67. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27144933

Agrawal S, Luan J, Cummings BB, Weiss EJ, Wareham NJ, Khera AV. Relationship of fat mass ratio, a biomarker for lipodystrophy, with cardiometabolic traits. Diabetes. 2024;73:1099–111.

Article  CAS  PubMed  Google Scholar 

Vasandani C, Li X, Sekizkardes H, Adams-Huet B, Brown RJ, Garg A. Diagnostic value of anthropometric measurements for Familial partial lipodystrophy, Dunnigan variety. J Clin Endocrinol Metab. 2020;105:2132–41.

Article  PubMed  PubMed Central  Google Scholar 

Meral R, Ryan BJ, Malandrino N, Jalal A, Neidert AH, Muniyappa R, et al. Fat shadows from DXA for the qualitative assessment of lipodystrophy: when a picture is worth a thousand numbers. Diabetes Care. 2018;41:2255–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liberato CBR, Olegario NBDC, Fernandes VO, Montenegro APDR, Lima GEDCP, Batista LAA et al. Early left ventricular systolic dysfunction detected by two-dimensional speckle-tracking echocardiography in young patients with congenital generalized lipodystrophy. Diabetes Metab Syndr Obes. 2020;13.

Rego AG, Mesquita ET, Faria CA, Rego MA, Baracho Mde F, Santos MG et al. [Cardiometabolic abnormalities in patients with Berardinelli-Seip syndrome]. Arq Bras Cardiol [Internet]. 2010;94:109–18. Available from: https://www.ncbi.nlm.nih.gov/pubmed/20414534

Al Yaarubi S, Alsagheir A, Al Shidhani A, Alzelaye S, Alghazir N, Brema I et al. Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the middle East and North Africa. Orphanet J Rare Dis. 2024;19.

Seip M. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? Acta paediatr. 1959/11/01. 1959;48:555–74.

Kosmas CE, Bousvarou MD, Kostara CE, Papakonstantinou EJ, Salamou E, Guzman E. Insulin resistance and cardiovascular disease. Journal of International Medical Research [Internet]. 2023;51. Available from: https://journals.sagepub.com/doi/10.1177/03000605231164548

Janaszak-Jasiecka A, Płoska A, Wierońska JM, Dobrucki LW, Kalinowski L. Endothelial dysfunction due to eNOS uncoupling: molecular mechanisms as potential therapeutic targets. Cell Mol Biol Lett. 2023;28.

Craveiro Sarmento AS, Gomes Lima J, de Souza Timoteo AR, Galvão Ururahy MA, Antunes de Araújo A, Carvalho Vasconcelos R et al. Changes in redox and Endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2. Biochim Biophys Acta Mol Cell Biol Lipids. 2020;1865.

Meng Z, Liu C, Xu M, Tao Y, Li H, Wang X, et al. Adipose transplantation improves metabolism and atherosclerosis but not perivascular adipose tissue abnormality or vascular dysfunction in lipodystrophic Seipin/Apoe null mice. Am J Physiol Cell Physiol. 2024;326:C1410–22.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Akinci G, Alyaarubi S, Patni N, Alhashmi N, Al-Shidhani A, Prodam F et al. Metabolic and other morbid complications in congenital generalized lipodystrophy type 4. Am J Med Genet A. 2024;194.

Guidorizzi NR, Valerio CM, Viola LF, Veras VR, Fernandes VO, Lima GE da. CP, Comprehensive analysis of morbidity and mortality patterns in Familial partial lipodystrophy patients: insights from a population study. Front Endocrinol (Lausanne). 2024;15.

Eldin AJ, Akinci B, da Rocha AM, Meral R, Simsir IY, Adiyaman SC, et al. Cardiac phenotype in Familial partial lipodystrophy. Clin Endocrinol (Oxf). 2021;94:1043–53.

Article  CAS  PubMed  Google Scholar 

Akinci B, Onay H, Demir T, Savas-Erdeve Ş, Gen R, Simsir IY, et al. Clinical presentations, metabolic abnormalities and end-organ complications in patients with Familial partial lipodystrophy. Metabolism. 2017;72:109–19.

Article  CAS  PubMed  Google Scholar 

Kinzer AB, Shamburek RD, Lightbourne M, Muniyappa R, Brown RJ. Advanced lipoprotein analysis shows atherogenic lipid profile that improves after metreleptin in patients with lipodystrophy. J Endocr Soc. 2019;3:1503–17.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hussain I, Patni N, Garg A. Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease. Pathology [Internet]. 2019/01/01. 2019;51:202–12. Available from: https://www.ncbi.nlm.nih.gov/pubmed/30595509

Garg A. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab [Internet]. 2000/06/08. 2000;85:1776–82. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve%26db=PubMed%26dopt=Citation%26list_uids=10843151

Chandalia M, Garg A, Vuitch F, Nizzi F. Postmortem findings in congenital generalized lipodystrophy. J Clin Endocrinol Metab [Internet]. 1995;80:3077–81. Available from: https://academic.oup.com/jcem/article-lookup/doi/https://doi.org/10.1210/jcem.80.10.7559900

Lupsa BC, Sachdev V, Lungu AO, Rosing DR, Gorden P. Cardiomyopathy in congenital and acquired generalized lipodystrophy: A clinical assessment. Medicine. 2010;89:245–50.

Article  PubMed  Google Scholar 

Fernández-Pombo A, Sánchez-Iglesias S, Castro-Pais AI, Ginzo-Villamayor MJ, Cobelo-Gómez S, Prado-Moraña T et al. Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain. Front Endocrinol (Lausanne). 2023;14.

Hegele RA. Premature atherosclerosis associated with monogenic insulin resistance. Circulation [Internet]. 2001/05/23. 2001;103:2225–9. Available from: https://www.ncbi.nlm.nih.gov/pubmed/11342468

Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O’Rahilly S. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab [Internet]. 2003/10/15. 2003;88:4840–7. Available from: https://doi.org/10.1210/jc.2003-030855

Ponte CMM, Fernandes VO, Gurgel MHC, Vasconcelos I, Karbage L, Liberato CBR et al. Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy. BMC Cardiovasc Disord [Internet]. 2018/01/14. 2018;18:6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve%26db=PubMed%26dopt=Citation%26list_uids=29329523

Brown RJ, Akinci B, Yosef M, Phillips H, Khalatbari S, Sorkina E et al. Lipodystrophy severity score to assess disease burden in lipodystrophy. J Clin Endocrinol Metab. 2025.

Cecchetti C, Belardinelli E, Dionese P, Teglia R, Fazzeri R, D’ Apice MR et al. Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report. Front Endocrinol (Lausanne). 2023;14.

Foss-Freitas MC, Besci Ö, Meral R, Neidert A, Chenevert TL, Oral EA, et al. A Very-Low-Calorie diet can cause remission of diabetes mellitus and hypertriglyceridemia in Familial partial lipodystrophy. Obes Facts. 2024;17:103–8.

Article  CAS  PubMed  Google Scholar 

Chakraborty S, Roy S, Das D, Chatterjee S, Sahana PK, Mukhopadhyay S. A very low carbohydrate diet improved metabolic profile in congenital generalized lipodystrophy type 4. Endocrinol Diabetes Metab Case Rep. 2025;2025.

Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab [Internet]. 2016/10/07. 2016;101:4500–11. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27710244

Hummadi A, Yafei S, Mutawwam DA, Abutaleb R, Solan Y, Khawaji A et al. Genomic and bioinformatics analysis of Familial partial lipodystrophy type 3 identified in a patient with novel PPARγ mutation and robust response to Pioglitazone. Int J Mol Sci. 2024;25.

Foss-Freitas MC, Imam S, Neidert A, Gomes AD, Broome DT, Oral EA. Efficacy and safety of glucagonlike peptide 1 agonists in a retrospective study of patients with Familial partial lipodystrophy. Diabetes Care. 2024;47:653–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ten S, Bhangoo A, Buettner C. Tirzepatide for Congenital Generalized Lipodystrophy. New England Journal of Medicine [Internet]. 2025;392:717–9. Available from: http://www.nejm.org/doi/https://doi.org/10.1056/NEJMc2413871

Meral R, Celik Guler M, Kaba D, Prativadi J, Frontera ED, Foss-Freitas MC et al. Metabolic Improvements With Tirzepatide in Lipodystrophy: A Novel Option? Diabetes Care [Internet]. 2025; Available from: https://diabetesjournals.org/care/article/doi/https://doi.org/10.2337/dc24-2408/157974/Metabolic-Improvements-With-Tirzepatide-in

Kawana Y, Imai J, Sawada S, Yamada T, Katagiri H. Sodium–Glucose cotransporter 2 inhibitor improves complications of lipodystrophy: A case report. Ann Intern Med. 2017;166:450.

Article  PubMed  Google Scholar 

Oral EA, Garg A, Tami J, Huang EA, O’Dea LStL, Schmidt H, et al. Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with Familial partial lipodystrophy: results of the BROADEN study. J Clin Lipidol. 2022;16:833–49.

Article  PubMed