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.

Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report.

Belo SP, Magalhães ÂC, Freitas P, Carvalho DM

BMC research notes 2015; (8()):140 doi:10.1186/s13104-015-1065-4.

Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities.

Akinci B, Koseoglu FD, Onay H, et al.

Metabolism: clinical and experimental 2015; (64(9)):1086-95.

Effect of insulin on AKR1C3 expression in female adipose tissue: in-vivo and in-vitro study of adipose androgen generation in polycystic ovary syndrome.

O'Reilly M, Gathercole L, Capper F, et al.

Lancet (London, England) 2015; (385 Suppl 1()):S16.

New advances in the treatment of generalized lipodystrophy: role of metreleptin.

Rodriguez AJ, Mastronardi CA, Paz-Filho GJ

Therapeutics and clinical risk management 2015; (11()):1391-400 doi:10.2147/TCRM.S66521.

Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy.

Meehan CA, Cochran E, Kassai A, et al.

Expert review of clinical pharmacology 2016; (9(1)):59-68 doi:10.1586/17512433.2016.1096772.

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.

Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations.

Demir T, Onay H, Savage DB, et al.

Diabetic medicine : a journal of the British Diabetic Association 2016; (33(10)):1445-50 doi:10.1111/dme.13061.

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.

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.

LMNA-associated partial lipodystrophy: anticipation of metabolic complications.

Jeru I, Vatier C, Vantyghem MC, et al.

Journal of medical genetics 2017; (54(6)):413-416 doi:10.1136/jmedgenet-2016-104437.

A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.

Agostini M, Schoenmakers E, Beig J, et al.

Diabetes 2018; (67(6)):1086-1092 doi:10.2337/db17-1236.

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.

A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalities.

Ozgen Saydam B, Sonmez M, Simsir IY, et al.

Endocrine research 2019; (44(1-2)):46-54 doi:10.1080/07435800.2018.1513029.

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.

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.

Broekema MF, Massink MPG, Donato C, et al.

Molecular metabolism 2019; (20()):115-127 doi:10.1016/j.molmet.2018.12.005.

Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.

Broekema MF, Savage DB, Monajemi H, Kalkhoven E

Biochimica et biophysica acta. Molecular and cell biology of lipids 2019; (1864(5)):715-732 doi:10.1016/j.bbalip.2019.02.002.

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.

Therapeutic plasma exchange for the management of severe gestational hypertriglyceridaemic pancreatitis due to lipoprotein lipase mutation.

Kim AS, Hakeem R, Abdullah A, et al.

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

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.

The complicated clinical course in a case of atypical lipodystrophy after development of neutralizing antibody to metreleptin: treatment with setmelanotide.

Akinci B, Meral R, Rus D, et al.

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

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.

Volanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy.

Esan O, Wierzbicki AS

Drug design, development and therapy 2020; (14()):2623-2636 doi:10.2147/DDDT.S224771.

Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy.

Altay C, Seçil M, Adıyaman SC, et al.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2020; (31(8)):588-595 doi:10.5152/tjg.2020.19114.

A Comprehensive Update on the Chylomicronemia Syndrome.

Goldberg RB, Chait A

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

Lobeglitazone: A Novel Thiazolidinedione for the Management of Type 2 Diabetes Mellitus.

Bae J, Park T, Kim H, et al.

Diabetes & metabolism journal 2021; (45(3)):326-336 doi:10.4093/dmj.2020.0272.

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.

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.

Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient.

Chen X, Ma Z, Chen P, et al.

Frontiers in endocrinology 2022; (13()):830708 doi:10.3389/fendo.2022.830708.

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.

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.

Hypertriglyceridemia.

Chait A

Endocrinology and metabolism clinics of North America 2022; (51(3)):539-555 doi:10.1016/j.ecl.2022.02.010.

Clinical characteristics and efficacy of pioglitazone in a Japanese patient with familial partial lipodystrophy due to peroxisome proliferator-activated receptor γ gene mutation.

Iizaka T, Kodama E, Mikura K, et al.

Endocrine journal 2023; (70(1)):69-76 doi:10.1507/endocrj.EJ22-0140.

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.

Efficacy of insulin in treating severe hypertriglyceridaemia in the third trimester of pregnancy.

Zhou D, Sun G, Hu J, Gan Q

Frontiers in medicine 2022; (9()):977620 doi:10.3389/fmed.2022.977620.

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.

Inguinal Fat Compensates Whole Body Metabolic Functionality in Partially Lipodystrophic Mice with Reduced PPARγ Expression.

Chang CS, Yu SS, Ho LC, et al.

International journal of molecular sciences 2023; (24(4)) doi:10.3390/ijms24043904.

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.

Systematic review of genotype-stratified treatment for monogenic insulin resistance.

Semple RK, Patel KA, Auh S, et al.

medRxiv : the preprint server for health sciences 2023; doi:10.1101/2023.04.17.23288671.

Body Fat Distribution Contributes to Defining the Relationship between Insulin Resistance and Obesity in Human Diseases.

Adeva-Andany MM, Domínguez-Montero A, Adeva-Contreras L, et al.

Current diabetes reviews 2024; (20(5)):e160823219824 doi:10.2174/1573399820666230816111624.

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.

The role of apheresis and insulin therapy in hypertriglyceridemic acute pancreatitis-a concise review.

Gubensek J

BMC gastroenterology 2023; (23(1)):341 doi:10.1186/s12876-023-02957-3.

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.

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.

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.

Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.

da Silva MA, Soares RMV, de Oliveira Filho AF, et al.

Diabetology & metabolic syndrome 2024; (16(1)):145 doi:10.1186/s13098-024-01387-9.

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.

Fernández-Pombo A, Yildirim Simsir I, Sánchez-Iglesias S, et al.

Diabetes, obesity & metabolism 2024; (26(11)):4875-4886 doi:10.1111/dom.15882.

Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.

Soares RMV, da Silva MA, Campos JTAM, Lima JG

Frontiers in endocrinology 2024; (15()):1394102 doi:10.3389/fendo.2024.1394102.

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.

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.

Familial chylomicronemia syndrome caused by 2 genetic variants in the APOA5 gene: Severe hypertriglyceridemia that complicates pregnancy.

Gutiérrez J, Castaño P, Fariña G, et al.

Journal of clinical lipidology 2025; (19(3)):701-706 doi:10.1016/j.jacl.2024.12.020.

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.

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.

Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia.

Hang S, Wang J, Taboun Z, et al.

Journal of clinical lipidology 2025; (19(4)):1085-1090 doi:10.1016/j.jacl.2025.05.021.

Epicardial adipose tissue measurement is an interesting biomarker for cardiovascular health in a case control study of patients with familial partial type 2 lipodystrophy.

Simonson M, Ancel P, Mortier R, et al.

Diabetes & metabolism 2026; (52(1)):101719 doi:10.1016/j.diabet.2025.101719.

Metabolic effects of pioglitazone and sodium-glucose cotransporter 2 inhibitors in familial partial lipodystrophy.

Soyaltin U, Simsir IY, Akinci B

Acta diabetologica 2026; (63(3)):497-505 doi:10.1007/s00592-025-02633-w.

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.

A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.

Gao Y, Song N, Fu L, et al.

International journal of molecular sciences 2026; (27(4)) doi:10.3390/ijms27041851.

A simple and robust reporter-based framework for deep functional characterization of PPARγ mutants.

Baak R, Westland D, de Lange E, et al.

Endocrinology 2026; (167(5)) doi:10.1210/endocr/bqag024.

Navigating hypertriglyceridemia in pregnancy: current evidence and clinical strategies.

Chamerski S, Wartecka-Zielińska K, Pomorski F, et al.

Frontiers in endocrinology 2026; (17()):1761761 doi:10.3389/fendo.2026.1761761.

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.

Pregnancy Outcomes Following Maternal Fenofibrate Exposure.

Uysal N, Colak O, Gultekin O, Akici A

Congenital anomalies 2026; (66(1)):e70079 doi:10.1002/cga.70079.