Research & Literature

Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.

Tchang BG, Shukla AP, Aronne LJ

Expert opinion on biological therapy 2015; (15(7)):1061-75 doi:10.1517/14712598.2015.1052789.

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.

A Report of Three Cases With Acquired Generalized Lipodystrophy With Distinct Autoimmune Conditions Treated With Metreleptin.

Lebastchi J, Ajluni N, Neidert A, Oral EA

The Journal of clinical endocrinology and metabolism 2015; (100(11)):3967-70 doi:10.1210/jc.2015-2589.

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.

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.

Lipodystrophy Syndromes.

Hussain I, Garg A

Endocrinology and metabolism clinics of North America 2016; (45(4)):783-797 doi:10.1016/j.ecl.2016.06.012.

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.

Effects of Metreleptin in Pediatric Patients With Lipodystrophy.

Brown RJ, Meehan CA, Cochran E, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(5)):1511-1519 doi:10.1210/jc.2016-3628.

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

Hussain I, Patni N, Ueda M, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(3)):1005-1014 doi:10.1210/jc.2017-02078.

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.

Metreleptin-mediated improvements in insulin sensitivity are independent of food intake in humans with lipodystrophy.

Brown RJ, Valencia A, Startzell M, et al.

The Journal of clinical investigation 2018; (128(8)):3504-3516.

Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.

Triantafyllou EA, Georgatsou E, Mylonis I, et al.

Biochimica et biophysica acta. Molecular and cell biology of lipids 2018; (1863(9)):1142-1152 doi:10.1016/j.bbalip.2018.06.015.

Acquired generalised lipodystrophy and type 1 diabetes mellitus in a child: a rare and implacable association.

Kumar R, Pilania RK, Bhatia A, Dayal D

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-225553.

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.

[Unusual facies and recurrent high triglycerides for more than one year in a girl].

Yin ZX, He XL, Zou RY

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(12)):1050-1054.

Diagnosis of acquired generalized lipodystrophy in a single patient with T-cell lymphoma and no exposure to Metreleptin.

Esfandiari NH, Rubenfire M, Neidert AH, et al.

Clinical diabetes and endocrinology 2019; (5()):4 doi:10.1186/s40842-019-0076-9.

Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes.

Vatier C, Kalbasi D, Vantyghem MC, et al.

Orphanet journal of rare diseases 2019; (14(1)):177 doi:10.1186/s13023-019-1141-2.

Comorbidities and Survival in Patients With Lipodystrophy: An International Chart Review Study.

Akinci B, Oral EA, Neidert A, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(11)):5120-5135 doi:10.1210/jc.2018-02730.

Acquired Generalized Lipodystrophy: A New Cause of Anti-PD-1 Immune-Related Diabetes.

Jehl A, Cugnet-Anceau C, Vigouroux C, et al.

Diabetes care 2019; (42(10)):2008-2010 doi:10.2337/dc18-2535.

Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies.

Ribeiro A, Brandão JR, Cleto E, et al.

GE Portuguese journal of gastroenterology 2019; (26(5)):362-369 doi:10.1159/000495767.

Advanced Lipoprotein Analysis Shows Atherogenic Lipid Profile That Improves After Metreleptin in Patients with Lipodystrophy.

Kinzer AB, Shamburek RD, Lightbourne M, et al.

Journal of the Endocrine Society 2019; (3(8)):1503-1517 doi:10.1210/js.2019-00103.

A CASE OF ACQUIRED GENERALIZED LIPODYSTROPHY ASSOCIATED WITH PEMBROLIZUMAB IN A PATIENT WITH METASTATIC MALIGNANT MELANOMA.

Bedrose S, Turin CG, Lavis VR, et al.

AACE clinical case reports 2020; (6(1)):e40-e45 doi:10.4158/ACCR-2019-0234.

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.

Effects of metreleptin in patients with lipodystrophy with and without baseline concomitant medication use.

Adamski K, Cook K, Gupta D, et al.

Current medical research and opinion 2021; (37(11)):1881-1889 doi:10.1080/03007995.2021.1976125.

Generalized lipoatrophy syndromes.

Sorkina E, Chichkova V

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

Complications of lipodystrophy syndromes.

Akinci G, Celik M, Akinci B

Presse medicale (Paris, France : 1983) 2021; (50(3)):104085 doi:10.1016/j.lpm.2021.104085.

The enigma of persistent hypertriglyceridemia: A case report.

Dhaliwal A, Ravi S, Bains K, et al.

Clinical case reports 2022; (10(3)):e05610 doi:10.1002/ccr3.5610.

Treatment Options for Lipodystrophy in Children.

Mainieri F, Tagi VM, Chiarelli F

Frontiers in endocrinology 2022; (13()):879979 doi:10.3389/fendo.2022.879979.

Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.

Mandel-Brehm C, Vazquez SE, Liverman C, et al.

Diabetes 2023; (72(1)):59-70 doi:10.2337/db21-1172.

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.

Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy.

Corvillo F, Abel BS, López-Lera A, et al.

Diabetes 2023; (72(1)):71-84 doi:10.2337/db21-1086.

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.

Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report.

Shindo A, Ueda K, Minatsuki S, et al.

Frontiers in genetics 2023; (14()):1148067 doi:10.3389/fgene.2023.1148067.

Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study.

Fernandez-Pombo A, Prado-Moraña T, Diaz-Lopez EJ, et al.

Journal of clinical medicine 2023; (12(23)) doi:10.3390/jcm12237344.

Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.

Ceccarini G, Pelosini C, Paoli M, et al.

Journal of endocrinological investigation 2024; (47(8)):1881-1886 doi:10.1007/s40618-024-02308-3.

Corticosteroid-triggered acute skeletal muscle loss in lipodystrophy: A case report.

Sasako T, Suzuki K, Odawara S, et al.

Journal of diabetes investigation 2024; (15(6)):782-785 doi:10.1111/jdi.14158.

Effects of Metreleptin in Patients With Generalized Lipodystrophy Before vs After the Onset of Severe Metabolic Disease.

Brush M, Auh S, Cochran E, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(4)):e1051-e1061 doi:10.1210/clinem/dgae335.

Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?

Vatier C, Vigouroux C, Mosbah H

Annales d'endocrinologie 2024; (85(3)):190-194 doi:10.1016/j.ando.2024.05.019.

Partial lipodystrophy: Clinical presentation and treatment.

Mosbah H, Vatier C, Vigouroux C

Annales d'endocrinologie 2024; (85(3)):197-200 doi:10.1016/j.ando.2024.05.015.

An unusual case of acquired generalized lipodystrophy (panniculitis variety).

Hill M, Weissman AS, Hirshburg J, et al.

Pediatric dermatology 2024; (41(6)):1152-1155 doi:10.1111/pde.15668.

Orbital Inflammatory Disease as a Presenting Symptom of Generalized Lipodystrophy in a Young Female.

Shabto JM, Shteyman AR, Stevens S, et al.

Ophthalmic plastic and reconstructive surgery 2025; (41(2)):e54-e56 doi:10.1097/IOP.0000000000002823.

Pembrolizumab-induced acquired lipodystrophy: a case report and review of the literature.

Marsiglio J, McPherson J, Wahl M, Hu-Lieskovan S

Melanoma research 2025; (35(2)):109-114 doi:10.1097/CMR.0000000000000998.

Leptin acutely increases hepatic triglyceride secretion in patients with lipodystrophy.

Beghini M, Metz M, Baumgartner C, et al.

Metabolism: clinical and experimental 2025; (169()):156261 doi:10.1016/j.metabol.2025.156261.

One-year metreleptin in Colombian sisters with congenital leptin deficiency.

Yupanqui-Lozno H, Huertas-Quintero JA, Yupanqui-Velazco ME, et al.

Adipocyte 2025; (14(1)):2508188 doi:10.1080/21623945.2025.2508188.

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.