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.

Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome.

Lewandowski KC, Lewiński A, Dąbrowska K, et al.

Endokrynologia Polska 2015; (66(6)):550-4 doi:10.5603/EP.2015.0067.

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.

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.

Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type.

Foss-Freitas MC, Ferraz RC, Monteiro LZ, et al.

Diabetology & metabolic syndrome 2018; (10()):6 doi:10.1186/s13098-017-0301-6.

Renal complications of lipodystrophy: A closer look at the natural history of kidney disease.

Akinci B, Unlu SM, Celik A, et al.

Clinical endocrinology 2018; (89(1)):65-75 doi:10.1111/cen.13732.

Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects.

Gambineri A, Zanotti L

Nucleus (Austin, Tex.) 2018; (9(1)):392-397 doi:10.1080/19491034.2018.1509659.

"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.

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.

Polybasic RKKR motif in the linker region of lipid droplet (LD)-associated protein CIDEC inhibits LD fusion activity by interacting with acidic phospholipids.

Wang J, Yan C, Xu C, et al.

The Journal of biological chemistry 2018; (293(50)):19330-19343 doi:10.1074/jbc.RA118.004892.

Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome).

Velter C, Messaddeq N, Levy E, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2019; (33(11)):2188-2191 doi:10.1111/jdv.15366.

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

Oral EA, Gorden P, Cochran E, et al.

Endocrine 2019; (64(3)):500-511 doi:10.1007/s12020-019-01862-8.

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.

Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.

Sekizkardes H, Cochran E, Malandrino N, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(8)):3068-3076 doi:10.1210/jc.2018-02787.

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.

A Comprehensive Update on the Chylomicronemia Syndrome.

Goldberg RB, Chait A

Frontiers in endocrinology 2020; (11()):593931 doi:10.3389/fendo.2020.593931.

The Metabolic Equivalent BMI in Patients with Familial Partial Lipodystrophy (FPLD) Compared with Those with Severe Obesity.

Koo E, Foss-Freitas MC, Meral R, et al.

Obesity (Silver Spring, Md.) 2021; (29(2)):274-278 doi:10.1002/oby.23049.

Cardiac phenotype in familial partial lipodystrophy.

Eldin AJ, Akinci B, da Rocha AM, et al.

Clinical endocrinology 2021; (94(6)):1043-1053 doi:10.1111/cen.14426.

Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2.

Lazarte J, Wang J, McIntyre AD, Hegele RA

Journal of clinical lipidology 2021; (15(5)):653-657 doi:10.1016/j.jacl.2021.07.004.

A gel-like condensation of Cidec generates lipid-permeable plates for lipid droplet fusion.

Lyu X, Wang J, Wang J, et al.

Developmental cell 2021; (56(18)):2592-2606.e7 doi:10.1016/j.devcel.2021.08.015.

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.

Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes.

Gutierrez Alvarez A, Yachelevich N, Kohn B, Brar PC

Annals of pediatric endocrinology & metabolism 2021; (26(4)):284-289 doi:10.6065/apem.2142056.028.

Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia.

Akamnonu C, Ueda M, Shah A

AACE clinical case reports 2022; (8(1)):11-14 doi:10.1016/j.aace.2021.06.005.

When Adipose Tissue Lets You Down: Understanding the Functions of Genes Disrupted in Lipodystrophy.

Rochford JJ

Diabetes 2022; (71(4)):589-598 doi:10.2337/dbi21-0006.

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.

Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network.

Mosbah H, Vantyghem MC, Nobécourt E, et al.

Diabetes, obesity & metabolism 2022; (24(8)):1565-1577 doi:10.1111/dom.14726.

Treatment Options for Lipodystrophy in Children.

Mainieri F, Tagi VM, Chiarelli F

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

Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.

Rutkowska L, Salachna D, Lewandowski K, et al.

Diagnostics (Basel, Switzerland) 2022; (12(5)) doi:10.3390/diagnostics12051122.

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.

Human CIDEC transgene improves lipid metabolism and protects against high-fat diet-induced glucose intolerance in mice.

Gupta A, Balakrishnan B, Karki S, et al.

The Journal of biological chemistry 2022; (298(9)):102347 doi:10.1016/j.jbc.2022.102347.

Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.

Treiber G, Guilleux A, Huynh K, et al.

Diabetes & metabolism 2023; (49(2)):101409 doi:10.1016/j.diabet.2022.101409.

Lipodystrophies in non-insulin-dependent children: Treatment options and results from recombinant human leptin therapy.

Calcaterra V, Magenes VC, Rossi V, et al.

Pharmacological research 2023; (187()):106629 doi:10.1016/j.phrs.2022.106629.

Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.

Gosseaume C, Fournier T, Jéru I, et al.

European journal of endocrinology 2023; (188(3)) doi:10.1093/ejendo/lvad023.

Pelvis Magnetic Resonance Imaging to Diagnose Familial Partial Lipodystrophy.

Adiyaman SC, Altay C, Kamisli BY, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(8)):e512-e520 doi:10.1210/clinem/dgad063.

Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects.

Kim S, Stockwell A, Qin H, et al.

PloS one 2023; (18(4)):e0280484 doi:10.1371/journal.pone.0280484.

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.

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

Besci O, Foss de Freitas MC, Guidorizzi NR, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(3)):e1204-e1224 doi:10.1210/clinem/dgad606.

Clinical and imaging features of women with polygenic partial lipodystrophy: a case series.

Loh WJ, Yaligar J, Hooper AJ, et al.

Nutrition & diabetes 2024; (14(1)):3 doi:10.1038/s41387-024-00260-y.

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023.

Ceccarini G, Akinci B, Araujo-Vilar D, et al.

Annales d'endocrinologie 2024; (85(4)):308-316 doi:10.1016/j.ando.2024.03.002.

Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy.

Valerio CM, Muniz RBG, Viola LF, et al.

Frontiers in endocrinology 2024; (15()):1359025 doi:10.3389/fendo.2024.1359025.

Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.

Morguetti MJ, Neves PDMM, Korkes I, et al.

Archives of endocrinology and metabolism 2024; (68()):e230204.

Leptin replacement therapy in the management of lipodystrophy syndromes.

Vigouroux C, Mosbah H, Vatier C

Annales d'endocrinologie 2024; (85(3)):201-204 doi:10.1016/j.ando.2024.05.022.

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.

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.

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

Frontiers in endocrinology 2024; (15()):1359211 doi:10.3389/fendo.2024.1359211.

A rapid action plan to improve diagnosis and management of lipodystrophy syndromes.

Fourman LT, Lima JG, Simha V, et al.

Frontiers in endocrinology 2024; (15()):1383318 doi:10.3389/fendo.2024.1383318.

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 series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

Rajan R, Chapla A, Johnson J, et al.

Scientific reports 2024; (14(1)):28277 doi:10.1038/s41598-024-79516-7.

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.

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.

Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.

Patni N, Xing C, Huang CY, et al.

International journal of molecular sciences 2026; (27(2)) doi:10.3390/ijms27020646.

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.

Acanthosis nigricans as a diagnostic clue for familial partial lipodystrophy type 2: a case report with review of literature on Japanese cases.

Kitamura T, Kusakabe T, Ishihara Y, et al.

Endocrine journal 2026; (73(8)):983-991 doi:10.1507/endocrj.EJ25-0487.

First diagnosis of familial partial lipodystrophy syndrome type 3 during pregnancy associated with a novel heterozygous PPARG variant and a concurrent ABCC8 variant: a case report.

Holstein A, Jabri I, Linck JA, et al.

Frontiers in endocrinology 2026; (17()):1855679 doi:10.3389/fendo.2026.1855679.

Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real-Life Experience From a National Reference Network.

Robert L, Belalem I, Vigouroux C, et al.

Diabetes, obesity & metabolism 2026; (28(11)):10318-10329 doi:10.1111/dom.71126.