{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T13:09:22Z","timestamp":1789391362394,"version":"build-2803163510"},"reference-count":40,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T00:00:00Z","timestamp":1789344000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Department of Education of the Corporate Fund \u2018University Medical Center\u2019"},{"id":[{"id":"https:\/\/ror.org\/02hp1c648","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Metabolites"],"abstract":"<jats:p>Background: Lipodystrophy syndromes are a group of rare disorders characterized by partial or generalized loss of adipose tissue, severe insulin resistance, and multiple metabolic complications. Despite increasing global awareness, lipodystrophy remains underrepresented in the published literature from Central Asia, and its true regional prevalence remains unknown. This study presents a case series of patients from Central Asia with congenital and acquired generalized lipodystrophy, reviews the existing regional literature, and determines challenges and future directions to improve lipodystrophy care in this region. Methods: We conducted a targeted regional literature review focusing on published reports from five Central Asian countries: Kazakhstan, Kyrgyzstan, Tajikistan, Turkmenistan, and Uzbekistan. A literature search was performed in electronic databases, including PubMed\/MEDLINE, Scopus, and Web of Science, from the earliest available records to 20 July 2026. Results: Reported cases of lipodystrophy from Central Asia were extremely scarce. Our cases also highlighted important barriers to effective care, including limited disease awareness and access to specialized therapies. Discussion: These findings indicate that lipodystrophy is underrepresented in the literature, and the true disease burden and extent of underdiagnosis in Central Asia remain unknown. Improving clinical awareness, developing international collaborations, widening access to genetic testing, and establishing multidisciplinary referral systems could significantly enhance patient outcomes. Conclusions: Lipodystrophy remains an underreported, rare condition in Central Asia. Our findings emphasize the urgent need for improved awareness, regional cooperation, development of expert clinics, and better access to specialized diagnostic and therapeutic resources to optimize care for affected patients.<\/jats:p>","DOI":"10.3390\/metabo16090678","type":"journal-article","created":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T12:09:51Z","timestamp":1789387791000},"page":"678","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Lipodystrophy in Central Asia: A Regional Literature Review with a Case Series of Congenital and Acquired Generalized Lipodystrophy"],"prefix":"10.3390","volume":"16","author":[{"given":"Marzhan","family":"Rakhimzhanova","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Corporate Fund \u201cUniversity Medical Center\u201d, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2391-4513","authenticated-orcid":false,"given":"Bikadisha","family":"Bimurat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Corporate Fund \u201cUniversity Medical Center\u201d, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimira","family":"Jangashkarova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Corporate Fund \u201cUniversity Medical Center\u201d, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1082-3687","authenticated-orcid":false,"given":"Assel","family":"Issabayeva","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, School of Medicine, Nazarbayev University, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aigul","family":"Durmanova","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Corporate Fund \u201cUniversity Medical Center\u201d, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2267-0940","authenticated-orcid":false,"given":"Alina","family":"Alzhaxina","sequence":"additional","affiliation":[{"name":"Department of Complex Somatics, Multidisciplinary Children\u2019s City Hospital, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatyana","family":"Ivanova-Razumova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Corporate Fund \u201cUniversity Medical Center\u201d, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-6770-858X","authenticated-orcid":false,"given":"Gulmira","family":"Rapilbekova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Corporate Fund \u201cUniversity Medical Center\u201d, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,9,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMra025261","article-title":"Acquired and inherited lipodystrophies","volume":"350","author":"Garg","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Brown, R.J., Akinci, B., Al Yaarubi, S., Bismuth, E., Cappa, M., Deeb, A., Kamrath, C., Musso, C., Patni, N., and Prodam, F. (2025). The clinical approach to child and adolescent patients with lipodystrophy: A series of international case discussions. Front. Endocrinol., 16.","DOI":"10.3389\/fendo.2025.1597053"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1159\/000522620","article-title":"Lipodystrophies in Children","volume":"95","author":"Mainieri","year":"2022","journal-title":"Horm. Res. Paediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"375","DOI":"10.2147\/DMSO.S130810","article-title":"Estimating the prevalence of generalized and partial lipodystrophy: Findings and challenges","volume":"10","author":"Chiquette","year":"2017","journal-title":"Diabetes Metab. Syndr. Obes."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s40618-018-0887-z","article-title":"Diagnosis and treatment of lipodystrophy: A step-by-step approach","volume":"42","author":"Santini","year":"2019","journal-title":"J. Endocrinol. Investig."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1210\/jc.2011-1159","article-title":"Lipodystrophies: Genetic and acquired body fat disorders","volume":"96","author":"Garg","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Freire, E.B.L., Brasil d\u2019Alva, C., Madeira, M.P., Lima, G.E.C.P., Fernandes, V.O., Aguiar, L.B., Portella, L.B., Galv\u00e3o Oz\u00f3rio, R., Ponte, C.M.M., and Montenegro, A.P.D.R. (2024). Heterogeneity and High Prevalence of Bone Manifestations, and Bone Mineral Density in Congenital Generalized Lipodystrophy Subtypes 1 and 2. Front. Endocrinol., 15.","DOI":"10.3389\/fendo.2024.1326700"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1517\/14712598.2015.1052789","article-title":"Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives","volume":"15","author":"Tchang","year":"2015","journal-title":"Expert Opin. Biol. Ther."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"104075","DOI":"10.1016\/j.lpm.2021.104075","article-title":"Generalized lipoatrophy syndromes","volume":"50","author":"Sorkina","year":"2021","journal-title":"Presse Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"104073","DOI":"10.1016\/j.lpm.2021.104073","article-title":"Autoimmunity in lipodystrophy syndromes","volume":"50","author":"Ceccarini","year":"2021","journal-title":"Presse Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.ecl.2016.06.012","article-title":"Lipodystrophy syndromes","volume":"45","author":"Hussain","year":"2016","journal-title":"Endocrinol. Metab. Clin. N. Am."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"71","DOI":"10.2337\/db21-1086","article-title":"Characterization and clinical association of autoantibodies against Perilipin 1 in patients with acquired generalized lipodystrophy","volume":"72","author":"Corvillo","year":"2023","journal-title":"Diabetes"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Corvillo, F., Gonz\u00e1lez-S\u00e1nchez, L., L\u00f3pez-Lera, A., Arjona, E., Ceccarini, G., Santini, F., Ara\u00fajo-Vilar, D., Brown, R.J., Villarroya, J., and Villarroya, F. (2021). Complement Factor D (Adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer\u2013Simons Syndrome). Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22126608"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"59","DOI":"10.2337\/db21-1172","article-title":"Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy","volume":"72","author":"Vazquez","year":"2023","journal-title":"Diabetes"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1111\/pde.15668","article-title":"An unusual case of acquired generalized lipodystrophy (panniculitis variety)","volume":"41","author":"Hill","year":"2024","journal-title":"Pediatr. Dermatol."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Zammouri, J., Vatier, C., Capel, E., Auclair, M., Storey-London, C., Bismuth, E., Mosbah, H., Donadille, B., Janmaat, S., and F\u00e8ve, B. (2022). Molecular and Cellular Bases of Lipodystrophy Syndromes. Front. Endocrinol., 12.","DOI":"10.3389\/fendo.2021.803189"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ando.2012.04.010","article-title":"How to Diagnose a Lipodystrophy Syndrome","volume":"73","author":"Vantyghem","year":"2012","journal-title":"Ann. Endocrinol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/s13105-015-0404-1","article-title":"Lipodystrophies: Adipose Tissue Disorders with Severe Metabolic Implications","volume":"71","year":"2015","journal-title":"J. Physiol. Biochem."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2329","DOI":"10.1016\/S0140-6736(26)00717-8","article-title":"Polyendocrine metabolic ovarian syndrome, the new name for polycystic ovary syndrome: A multistep global consensus process","volume":"407","author":"Teede","year":"2026","journal-title":"Lancet"},{"key":"ref_20","first-page":"1391","article-title":"New Advances in the Treatment of Generalized Lipodystrophy: Role of Metreleptin","volume":"11","author":"Rodriguez","year":"2015","journal-title":"Ther. Clin. Risk Manag."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ando.2024.05.022","article-title":"Leptin Replacement Therapy in the Management of Lipodystrophy Syndromes","volume":"85","author":"Vigouroux","year":"2024","journal-title":"Ann. Endocrinol."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Mainieri, F., Tagi, V.M., and Chiarelli, F. (2022). Treatment Options for Lipodystrophy in Children. Front. Endocrinol., 13.","DOI":"10.3389\/fendo.2022.879979"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Jin, Y., Tan, Y., Zhao, P., and Ren, Z. (2020). SEIPIN: A key factor for nuclear lipid droplet generation and lipid homeostasis. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21218208"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1186\/s13023-024-03245-3","article-title":"Diagnosis, Treatment and Management of Lipodystrophy: The Physician Perspective on the Patient Journey","volume":"19","author":"Patni","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"103542","DOI":"10.1016\/j.ejmg.2018.09.009","article-title":"Further delineation of AGPAT2- and BSCL2-related congenital generalized lipodystrophy in young infants","volume":"62","author":"Liu","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1186\/s13023-020-01383-y","article-title":"Genotype\u2013phenotype correlations of Berardinelli\u2013Seip congenital lipodystrophy and novel candidate genes prediction","volume":"15","author":"Ren","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1515\/jpem-2022-0372","article-title":"Features of BSCL2-related congenital generalized lipodystrophy in China: Long-term follow-up of three patients and literature review","volume":"36","author":"Su","year":"2023","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Yang, Y., Ma, L., Sun, J., Gong, X., Cai, C., and Hong, W. (2022). The neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: A case report. BMC Endocr. Disord., 22.","DOI":"10.1186\/s12902-022-00992-x"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s11892-018-1099-9","article-title":"Phenotypic and genetic characteristics of lipodystrophy: Pathophysiology, metabolic abnormalities, and comorbidities","volume":"18","author":"Akinci","year":"2018","journal-title":"Curr. Diabetes Rep."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Fernandez-Pombo, A., Diaz-Lopez, E.J., Castro, A.I., Sanchez-Iglesias, S., Cobelo-Gomez, S., Prado-Mora\u00f1a, T., and Araujo-Vilar, D. (2023). Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review. Cells, 12.","DOI":"10.3390\/cells12050725"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1034\/j.1399-0004.2002.610407.x","article-title":"Cardiomyopathy in congenital complete lipodystrophy","volume":"61","author":"Bhayana","year":"2002","journal-title":"Clin. Genet."},{"key":"ref_32","unstructured":"National Center for Biotechnology Information (2026, June 25). ClinVar Variation ID: 4545; VCV000004545.9; NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter), Available online: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/4545\/."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2360","DOI":"10.1210\/jc.2003-031211","article-title":"Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: A novel homozygous nonsense mutation in seipin gene","volume":"89","author":"Ebihara","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/s44162-022-00004-5","article-title":"The impact of consanguinity on human health and disease with an emphasis on rare diseases","volume":"1","author":"Temaj","year":"2022","journal-title":"J. Rare Dis."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1111\/j.1469-1809.2007.00369.x","article-title":"Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil","volume":"71","author":"Gomes","year":"2007","journal-title":"Ann. Hum. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1111\/j.1442-200X.2009.02863.x","article-title":"Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations","volume":"51","author":"Nishiyama","year":"2009","journal-title":"Pediatr. Int."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"S\u00e1nchez-Iglesias, S., Fern\u00e1ndez-Pombo, A., Cobelo-G\u00f3mez, S., Hermida-Ameijeiras, \u00c1., Alarc\u00f3n-Mart\u00ednez, H., Domingo-Jim\u00e9nez, R., Ru\u00edz Riquelme, A.I., Requena, J.R., and Ara\u00fajo-Vilar, D. (2021). Celia\u2019s encephalopathy (BSCL2-gene-related): Current understanding. J. Clin. Med., 10.","DOI":"10.3390\/jcm10071435"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"e445","DOI":"10.1016\/j.amjmed.2017.04.035","article-title":"Acquired generalized lipodystrophy following immune thrombocytopenia","volume":"130","author":"Cunningham","year":"2017","journal-title":"Am. J. Med."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s11892-025-01603-4","article-title":"Clinical guidance for lipodystrophy syndromes: From diagnosis and work-up to treatment","volume":"25","author":"Gilio","year":"2025","journal-title":"Curr. Diabetes Rep."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Wang, Y., Guo, J., Zhang, P., Liu, F., and Li, H. (2025). Case report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review. Front. Genet., 16.","DOI":"10.3389\/fgene.2025.1528563"}],"container-title":["Metabolites"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2218-1989\/16\/9\/678\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T12:57:23Z","timestamp":1789390643000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2218-1989\/16\/9\/678"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,14]]},"references-count":40,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2026,9]]}},"alternative-id":["metabo16090678"],"URL":"https:\/\/doi.org\/10.3390\/metabo16090678","relation":{},"ISSN":["2218-1989"],"issn-type":[{"value":"2218-1989","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,14]]}}}