Research & Literature

Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin.

Diker-Cohen T, Cochran E, Gorden P, Brown RJ

The Journal of clinical endocrinology and metabolism 2015; (100(5)):1802-10 doi:10.1210/jc.2014-4491.

Lymphoma in acquired generalized lipodystrophy.

Brown RJ, Chan JL, Jaffe ES, et al.

Leukemia & lymphoma 2016; (57(1)):45-50 doi:10.3109/10428194.2015.1040015.

Congenital generalized lipodystrophies--new insights into metabolic dysfunction.

Patni N, Garg A

Nature reviews. Endocrinology 2015; (11(9)):522-34 doi:10.1038/nrendo.2015.123.

A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma.

Patni N, Alves C, von Schnurbein J, et al.

The Journal of clinical endocrinology and metabolism 2015; (100(10)):3603-6 doi:10.1210/jc.2015-2476.

Case report: Dental management of Berardinelli-Seip congenital lipodystrophy.

Bhujel N, Clark H

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry 2016; (17(2)):137-40 doi:10.1007/s40368-015-0210-z.

Immunogenicity associated with metreleptin treatment in patients with obesity or lipodystrophy.

Chan JL, Koda J, Heilig JS, et al.

Clinical endocrinology 2016; (85(1)):137-49 doi:10.1111/cen.12980.

Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy.

Lima JG, Nobrega LH, de Lima NN, et al.

Diabetology & metabolic syndrome 2016; (8()):23 doi:10.1186/s13098-016-0140-x.

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

Akinci B, Onay H, Demir T, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(7)):2759-67 doi:10.1210/jc.2016-1005.

Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.

Salle-Teyssières L, Auclair M, Terro F, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(7)):2892-904 doi:10.1210/jc.2016-1086.

Hypertriglyceridemic pancreatitis associated with confounding laboratory abnormalities.

Melnick S, Nazir S, Gish D, Aryal MR

Journal of community hospital internal medicine perspectives 2016; (6(3)):31808 doi:10.3402/jchimp.v6.31808.

Efficacy and Safety of Metreleptin in Patients with Partial Lipodystrophy: Lessons from an Expanded Access Program.

Ajluni N, Dar M, Xu J, et al.

Journal of diabetes & metabolism 2016; (7(3)).

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.

Brown RJ, Araujo-Vilar D, Cheung PT, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(12)):4500-4511 doi:10.1210/jc.2016-2466.

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Purizaca-Rosillo N, Mori T, Benites-Cóndor Y, et al.

American journal of medical genetics. Part A 2017; (173(2)):471-478 doi:10.1002/ajmg.a.38053.

Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.

Gupta N, Asi N, Farah W, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(2)):363-374 doi:10.1210/jc.2016-2271.

Metreleptin Treatment in Three Patients with Generalized Lipodystrophy.

Musso C, Major ML, Andres E, Simha V

Clinical medicine insights. Case reports 2016; (9()):123-127 doi:10.4137/CCRep.S40196.

Lipase or amylase for the diagnosis of acute pancreatitis?

Ismail OZ, Bhayana V

Clinical biochemistry 2017; (50(18)):1275-1280 doi:10.1016/j.clinbiochem.2017.07.003.

Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.

Altay C, Seçil M, Demir T, et al.

Diagnostic and interventional radiology (Ankara, Turkey) 2017; (23(6)):428-434 doi:10.5152/dir.2017.17019.

High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil.

de Azevedo Medeiros LB, Cândido Dantas VK, Craveiro Sarmento AS, et al.

Diabetology & metabolic syndrome 2017; (9()):80 doi:10.1186/s13098-017-0280-7.

Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy.

Papendieck L, Araujo MB

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(1)):77-83 doi:10.1515/jpem-2017-0355.

Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy.

Brown RJ, Oral EA, Cochran E, et al.

Endocrine 2018; (60(3)):479-489 doi:10.1007/s12020-018-1589-1.

Diagnosis and treatment of lipodystrophy: a step-by-step approach.

Araújo-Vilar D, Santini F

Journal of endocrinological investigation 2019; (42(1)):61-73 doi:10.1007/s40618-018-0887-z.

Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy.

Cândido Dantas VK, Soares JDS, de Azevedo Medeiros LB, et al.

PloS one 2018; (13(6)):e0197784 doi:10.1371/journal.pone.0197784.

Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.

Lima JG, Nobrega LHC, Lima NN, et al.

PloS one 2018; (13(6)):e0199052 doi:10.1371/journal.pone.0199052.

"Fat Shadows" From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers.

Meral R, Ryan BJ, Malandrino N, et al.

Diabetes care 2018; (41(10)):2255-2258 doi:10.2337/dc18-0978.

Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.

Liu Y, Li D, Ding Y, et al.

European journal of medical genetics 2019; (62(9)):103542 doi:10.1016/j.ejmg.2018.09.009.

Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy.

Corvillo F, Aparicio V, López-Lera A, et al.

Frontiers in immunology 2018; (9()):2142 doi:10.3389/fimmu.2018.02142.

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Vatier C, Vantyghem MC, Storey C, et al.

Current medical research and opinion 2019; (35(3)):543-552 doi:10.1080/03007995.2018.1533459.

Update on Therapeutic Options in Lipodystrophy.

Akinci B, Meral R, Oral EA

Current diabetes reports 2018; (18(12)):139 doi:10.1007/s11892-018-1100-7.

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.

Takeyari S, Takakuwa S, Miyata K, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2019; (28(1)):1-7 doi:10.1297/cpe.28.1.

The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.

Craveiro Sarmento AS, Ferreira LC, Lima JG, et al.

Mutation research. Reviews in mutation research 2019; (781()):30-52 doi:10.1016/j.mrrev.2019.03.005.

The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years.

Maeda M, Maeda T, Ebihara K, Ihara K

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2019; (28(4)):139-145 doi:10.1297/cpe.28.139.

Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up.

Joshi R, Sharma S

Indian pediatrics 2019; (56(10)):877-878.

Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.

Nilay Güneş , Kutlu T, Tekant GT, et al.

European journal of medical genetics 2020; (63(4)):103819 doi:10.1016/j.ejmg.2019.103819.

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy.

Qin YY, Zhang X, Xiang LQ, et al.

Diabetes, metabolic syndrome and obesity : targets and therapy 2019; (12()):2583-2587 doi:10.2147/DMSO.S207293.

Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions.

Yamamoto A, Kusakabe T, Sato K, et al.

Acta radiologica open 2019; (8(12)):2058460119892407 doi:10.1177/2058460119892407.

Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy.

Liberato CBR, Olegario NBDC, Fernandes VO, et al.

Diabetes, metabolic syndrome and obesity : targets and therapy 2020; (13()):107-115 doi:10.2147/DMSO.S233667.

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.

Ceccarini G, Magno S, Pelosini C, et al.

Frontiers in endocrinology 2020; (11()):39 doi:10.3389/fendo.2020.00039.

High prevalence of congenital generalized lipodystrophy in Piura, Peru.

Purizaca-Rosillo ND, Benites-Cóndor YE, Abarca Barriga H, et al.

Intractable & rare diseases research 2020; (9(1)):58-60 doi:10.5582/irdr.2020.01004.

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.

Xie B, Fan X, Lei Y, et al.

Molecular medicine reports 2020; (21(6)):2296-2302 doi:10.3892/mmr.2020.11036.

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.

Ren M, Shi J, Jia J, et al.

Orphanet journal of rare diseases 2020; (15(1)):108 doi:10.1186/s13023-020-01383-y.

Eating behaviour in contrasting adiposity phenotypes: Monogenic obesity and congenital generalized lipodystrophy.

Santos JL, Cortés VA

Obesity reviews : an official journal of the International Association for the Study of Obesity 2021; (22(1)):e13114 doi:10.1111/obr.13114.

Altered acylated ghrelin response to food intake in congenital generalized lipodystrophy.

Araújo COD, Montenegro RM, Pedroso AP, et al.

PloS one 2021; (16(1)):e0244667 doi:10.1371/journal.pone.0244667.

Targeted massively parallel sequencing for congenital generalized lipodystrophy.

Costa-Riquetto AD, Santana LS, Caetano LA, et al.

Archives of endocrinology and metabolism 2021; (64(5)):559-566.

Metreleptin replacement treatment improves quality of life and psychological well-being in congenital generalized lipodystrophy.

Simsir IY, Yurekli BS, Polat I, et al.

The National medical journal of India 2020; (33(5)):278-280 doi:10.4103/0970-258X.317476.

Generalized lipoatrophy syndromes.

Sorkina E, Chichkova V

Presse medicale (Paris, France : 1983) 2021; (50(3)):104075 doi:10.1016/j.lpm.2021.104075.

Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.

Karhan AN, Zammouri J, Auclair M, et al.

European journal of endocrinology 2021; (185(6)):841-854 doi:10.1530/EJE-21-0915.

Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.

Adiyaman SC, V Schnurbein J, De Laffolie J, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(7)):946-952 doi:10.1515/jpem-2022-0022.

Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report.

Hummadi A, Nahari AA, Alhagawy AJ, et al.

Clinical case reports 2022; (10(4)):e05720 doi:10.1002/ccr3.5720.

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

Özalkak Ş, Demiral M, Ünal E, et al.

Journal of clinical research in pediatric endocrinology 2023; (15(3)):329-333 doi:10.4274/jcrpe.galenos.2022.2022-1-25.

Lipodystrophy for the Diabetologist-What to Look For.

Patni N, Garg A

Current diabetes reports 2022; (22(9)):461-470 doi:10.1007/s11892-022-01485-w.

Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event.

Beires F, Greenfield H, Brito da Silva J, et al.

European journal of case reports in internal medicine 2022; (9(12)):003658 doi:10.12890/2022_003658.

Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO.

da Cunha Olegario NB, da Cunha Neto JS, Barbosa PCS, et al.

Scientific reports 2023; (13(1)):2176 doi:10.1038/s41598-023-27987-5.

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report.

Cecchetti C, Belardinelli E, Dionese P, et al.

Frontiers in endocrinology 2023; (14()):1190363 doi:10.3389/fendo.2023.1190363.

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.

Mancioppi V, Daffara T, Romanisio M, et al.

Frontiers in endocrinology 2023; (14()):1212729 doi:10.3389/fendo.2023.1212729.

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Akinci G, Alyaarubi S, Patni N, et al.

American journal of medical genetics. Part A 2024; (194(6)):e63533 doi:10.1002/ajmg.a.63533.

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

Al Yaarubi S, Alsagheir A, Al Shidhani A, et al.

Orphanet journal of rare diseases 2024; (19(1)):118 doi:10.1186/s13023-024-03084-2.

Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey.

Patni N, Chard C, Araújo-Vilar D, et al.

Orphanet journal of rare diseases 2024; (19(1)):263 doi:10.1186/s13023-024-03245-3.

A Rare Case of Congenital Generalized Lipodystrophy.

Chalipat S, Avuthu OPR, Sindhura P, Mane SV

Cureus 2024; (16(7)):e64276 doi:10.7759/cureus.64276.

The blood transcriptome of the human congenital generalized lipodystrophy.

Ferreira LC, Lima JG, Mendes-Aguiar CO, et al.

Endocrine 2025; (89(2)):395-400 doi:10.1007/s12020-025-04257-0.

A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.

Brown RJ, Araujo-Vilar D, Walkovich KJ, et al.

Frontiers in endocrinology 2025; (16()):1582715 doi:10.3389/fendo.2025.1582715.

Calf skinfold measurements as a diagnostic tool for lipodystrophy syndromes: a cross-sectional study.

da Cruz Paiva Lima GE, de Moura Lopes FK, Araújo JS, et al.

Diabetology & metabolic syndrome 2025; (17(1)):388 doi:10.1186/s13098-025-01934-y.

"Seipin mediates Perilipin-1 recruitment to lipid droplets to preserve human adipocyte identity".

Zhong D, Stavrakaki I, Desai A, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.11.09.687445.

Prevention and treatment of hypertriglyceridemia-mediated acute pancreatitis: A narrative review.

Subramanian S, Soran H, Sikora Kessler A, et al.

European journal of internal medicine 2025; 106648 doi:10.1016/j.ejim.2025.106648.

Clinical heterogeneity and disease progression during adolescence in AGPAT2-associated congenital generalized lipodystrophy: a case series of four patients.

Weiskorn J, Kordonouri O

Journal of pediatric endocrinology & metabolism : JPEM 2026; doi:10.1515/jpem-2026-0516.