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.

An adolescent girl referred with Cushing syndrome--does she or does she not have the syndrome?

Kao KT, Zacharin M

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(1)):109-12.

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.

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.

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.

Zolotov S, Xing C, Mahamid R, et al.

American journal of medical genetics. Part A 2017; (173(1)):190-194 doi:10.1002/ajmg.a.37880.

Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.

Ajluni N, Meral R, Neidert AH, et al.

Clinical endocrinology 2017; (86(5)):698-707 doi:10.1111/cen.13311.

Novel Pharmacological Probes Reveal ABHD5 as a Locus of Lipolysis Control in White and Brown Adipocytes.

Rondini EA, Mladenovic-Lucas L, Roush WR, et al.

The Journal of pharmacology and experimental therapeutics 2017; (363(3)):367-376 doi:10.1124/jpet.117.243253.

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges.

Chiquette E, Oral EA, Garg A, et al.

Diabetes, metabolic syndrome and obesity : targets and therapy 2017; (10()):375-383 doi:10.2147/DMSO.S130810.

"We're stuck with what we've got": The impact of lipodystrophy on body image.

Adams C, Stears A, Savage D, Deaton C

Journal of clinical nursing 2018; (27(9-10)):1958-1968 doi:10.1111/jocn.14342.

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.

Evaluation of the hypothalamic-pituitary-adrenal axis in a case series of familial partial lipodystrophy.

Elias CP, Antunes DE, Coelho MS, et al.

Diabetology & metabolic syndrome 2019; (11()):1 doi:10.1186/s13098-018-0396-4.

The Chylomicronemia Syndrome Is Most Often Multifactorial: A Narrative Review of Causes and Treatment.

Chait A, Eckel RH

Annals of internal medicine 2019; (170(9)):626-634 doi:10.7326/M19-0203.

A rare case of acute pancreatitis due to very severe hypertriglyceridemia treated with subcutaneous insulin and lipid lowering drugs.

Bajaj T, Grandhe S, Duong H, Ratnayake SN

AME case reports 2019; (3()):26 doi:10.21037/acr.2019.07.03.

Diagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety.

Vasandani C, Li X, Sekizkardes H, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(7)) doi:10.1210/clinem/dgaa137.

Familial Partial Lipodystrophy (FPLD): Recent Insights.

Bagias C, Xiarchou A, Bargiota A, Tigas S

Diabetes, metabolic syndrome and obesity : targets and therapy 2020; (13()):1531-1544 doi:10.2147/DMSO.S206053.

LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells.

Sollier C, Capel E, Aguilhon C, et al.

European journal of endocrinology 2021; (184(1)):155-168.

Hormone-sensitive lipase: sixty years later.

Recazens E, Mouisel E, Langin D

Progress in lipid research 2021; (82()):101084 doi:10.1016/j.plipres.2020.101084.

Advanced lipodystrophy reverses fatty liver in mice lacking adipocyte hormone-sensitive lipase.

Pajed L, Taschler U, Tilp A, et al.

Communications biology 2021; (4(1)):323 doi:10.1038/s42003-021-01858-z.

Experiences and Perspectives of Patients with Non-HIV-Associated Lipodystrophies and Their Caregivers: A Qualitative Study.

Gomes A, Cook K, Wong A, et al.

The patient 2021; (14(5)):673-685 doi:10.1007/s40271-021-00511-5.

A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians.

Muller YL, Sutherland J, Nair AK, et al.

Diabetes/metabolism research and reviews 2022; (38(3)):e3504 doi:10.1002/dmrr.3504.

Advances in the care of lipodystrophies.

Shamsudeen I, Hegele RA

Current opinion in endocrinology, diabetes, and obesity 2022; (29(2)):152-160 doi:10.1097/MED.0000000000000695.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Mosbah H, Donadille B, Vatier C, et al.

Orphanet journal of rare diseases 2022; (17(Suppl 1)):170 doi:10.1186/s13023-022-02308-7.

Hormone sensitive lipase ablation promotes bone regeneration.

Shen WJ, Still Ii C, Han L, et al.

Biochimica et biophysica acta. Molecular basis of disease 2022; (1868(9)):166449 doi:10.1016/j.bbadis.2022.166449.

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.

Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up.

Vu NP, Tran HT, Vu NB, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(9)):1206-1210 doi:10.1515/jpem-2022-0208.

Rosiglitazone Reverses Inflammation in Epididymal White Adipose Tissue in Hormone-Sensitive Lipase-Knockout Mice.

Kotzbeck P, Taschler U, Haudum C, et al.

Journal of lipid research 2023; (64(1)):100305 doi:10.1016/j.jlr.2022.100305.

Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.

Vasandani C, Li X, Sekizkardes H, et al.

Journal of the Endocrine Society 2022; (6(12)):bvac155 doi:10.1210/jendso/bvac155.

The dysfunction of hormone-sensitive lipase induces lipid deposition and reprogramming of nutrient metabolism in fish.

Wang JG, Zhao SH, Qian YC, et al.

The British journal of nutrition 2023; (130(4)):588-603 doi:10.1017/S0007114522003622.

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.

Fernandez-Pombo A, Diaz-Lopez EJ, Castro AI, et al.

Cells 2023; (12(5)) doi:10.3390/cells12050725.

Waist circumference is independently associated with liver steatosis and fibrosis in LMNA-related and unrelated Familial Partial Lipodystrophy women.

Viola LF, Valerio CM, Araujo-Neto JM, et al.

Diabetology & metabolic syndrome 2023; (15(1)):182 doi:10.1186/s13098-023-01156-0.

Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.

Mosbah H, Vatier C, Andriss B, et al.

European journal of endocrinology 2024; (190(1)):23-33 doi:10.1093/ejendo/lvad169.

Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.

Donadille B, Janmaat S, Mosbah H, et al.

Orphanet journal of rare diseases 2024; (19(1)):177 doi:10.1186/s13023-024-03173-2.

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.

Lipomatoses.

Dupuis H, Lemaitre M, Jannin A, et al.

Annales d'endocrinologie 2024; (85(3)):231-247 doi:10.1016/j.ando.2024.05.003.

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.

Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene.

Zhou Y, Zhang L, Ding Y, Zhai Y

Frontiers in genetics 2024; (15()):1417613 doi:10.3389/fgene.2024.1417613.

Health-related Quality of Life, Social, and Psychological Well-Being of 109 Adult Patients With Genetic Lipodystrophy.

Mosbah H, Vatier C, Andriss B, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(8)):e2532-e2543 doi:10.1210/clinem/dgae837.

Safety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: Real-life experience from a national reference network.

Lamothe S, Belalem I, Vantyghem MC, et al.

Diabetes, obesity & metabolism 2025; (27(4)):1815-1825 doi:10.1111/dom.16175.

Metabolic Improvements With Tirzepatide in Lipodystrophy: A Novel Option?

Meral R, Celik Guler M, Kaba D, et al.

Diabetes care 2025; (48(5)):756-762 doi:10.2337/dc24-2408.

Efficacy and Safety of Obeticholic Acid for Treating Hepatic Steatosis in Patients With Familial Partial Lipodystrophy.

Garg A, Vasandani C, Li X, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(11)):e3617-e3625 doi:10.1210/clinem/dgaf173.

A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.

Perez-Dionisio E, Hinojosa-Alvarez S, Chavez-Santoscoy RA, et al.

Archives of endocrinology and metabolism 2025; (69(1)):e240293 doi:10.20945/2359-4292-2024-0293.

Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.

Valerio CM, Viola LF, Guidorizzi NR, et al.

Diabetology & metabolic syndrome 2025; (17(1)):186 doi:10.1186/s13098-025-01733-5.

Hypertriglyceridemia-Induced Acute Pancreatitis with Lipemic Samples in a Type 2 Diabetic Patient: A Case Report in a Resource-Limited Setting.

Ahmed HM, Osman MH, Hassan SA, et al.

International medical case reports journal 2025; (18()):645-649 doi:10.2147/IMCRJ.S516349.

Interesting Case of Familial Partial Lipodystrophy Syndrome (Type 6) with LIPE Gene Defect: A Case Report.

Mohan V, Damle VA, Patil AV, et al.

The Journal of the Association of Physicians of India 2025; (73(5)):93-94 doi:10.59556/japi.73.0932.

Nuclear hormone-sensitive lipase regulates adipose tissue mass and adipocyte metabolism.

Dufau J, Recazens E, Bottin L, et al.

Cell metabolism 2025; (37(11)):2250-2263.e9 doi:10.1016/j.cmet.2025.09.014.

Approach to the Adult Patient with Chylomicronemia.

Hegele RA

The Journal of clinical endocrinology and metabolism 2026; (111(3)):845-859 doi:10.1210/clinem/dgaf701.

Clinical Guidelines for the Diagnosis and Management of Generalized and Partial Lipodystrophies: A Position Statement Endorsed by the Hellenic Endocrine Society.

Lambadiari V, Bargiota A, Kanaka-Gantenbein C, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2026; (32(6)):1008-1016 doi:10.1016/j.eprac.2026.02.014.

Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.

Magno S, Pelosini C, Paoli M, et al.

Frontiers in endocrinology 2026; (17()):1725771 doi:10.3389/fendo.2026.1725771.

Lipidomics analysis to assess metabolic complications in familial partial lipodystrophy type 2.

Koue-Chon-Lim J, Beyene HB, Giles C, et al.

Diabetes research and clinical practice 2026; (237()):113297 doi:10.1016/j.diabres.2026.113297.

The Metabolic Legacy of Acute Pancreatitis: Post-Pancreatitis Diabetes Mellitus.

Chooklin S, Chuklin S

Clinical and experimental gastroenterology 2026; (19()):635877 doi:10.2147/CEG.S635877.