Research & Literature

Defective differentiation of adipose precursor cells from lipodystrophic mice lacking perilipin 1.

Lyu Y, Su X, Deng J, et al.

PloS one 2015; (10(2)):e0117536 doi:10.1371/journal.pone.0117536.

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.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Lipodystrophies: adipose tissue disorders with severe metabolic implications.

Cortés VA, Fernández-Galilea M

Journal of physiology and biochemistry 2015; (71(3)):471-8 doi:10.1007/s13105-015-0404-1.

Structure of a CGI-58 motif provides the molecular basis of lipid droplet anchoring.

Boeszoermenyi A, Nagy HM, Arthanari H, et al.

The Journal of biological chemistry 2015; (290(44)):26361-72 doi:10.1074/jbc.M115.682203.

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.

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.

Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl.

Krawiec P, Mełges B, Pac-Kożuchowska E, et al.

BMC pediatrics 2016; (16()):38 doi:10.1186/s12887-016-0581-2.

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.

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.

Visualization of lipid directed dynamics of perilipin 1 in human primary adipocytes.

Hansen JS, de Maré S, Jones HA, et al.

Scientific reports 2017; (7(1)):15011 doi:10.1038/s41598-017-15059-4.

Spontaneous development of hepatosteatosis in perilipin-1 null mice with adipose tissue dysfunction.

Wei S, Liu S, Su X, et al.

Biochimica et biophysica acta. Molecular and cell biology of lipids 2018; (1863(2)):212-218 doi:10.1016/j.bbalip.2017.11.007.

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.

The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature.

Chen RX, Zhang L, Ye W, et al.

BMC nephrology 2018; (19(1)):111 doi:10.1186/s12882-018-0913-6.

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Laver TW, Patel KA, Colclough K, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(9)):3225-3230 doi:10.1210/jc.2017-02662.

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.

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.

Jéru I, Vantyghem MC, Bismuth E, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(12)):6025-6032 doi:10.1210/jc.2019-00849.

Lipodystrophic syndromes: From diagnosis to treatment.

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

Annales d'endocrinologie 2020; (81(1)):51-60 doi:10.1016/j.ando.2019.10.003.

Adipocyte lipolysis: from molecular mechanisms of regulation to disease and therapeutics.

Yang A, Mottillo EP

The Biochemical journal 2020; (477(5)):985-1008 doi:10.1042/BCJ20190468.

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.

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.

Mosbah H, Vatier C, Boccara F, et al.

Cells 2020; (9(3)) doi:10.3390/cells9030765.

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.

A Comprehensive Update on the Chylomicronemia Syndrome.

Goldberg RB, Chait A

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

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.

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.

Patel KA, Burman S, Laver TW, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(6)):e2318-e2323 doi:10.1210/clinem/dgac104.

Clinical Effects of Sodium-Glucose Transporter Type 2 Inhibitors in Patients With Partial Lipodystrophy.

Bansal R, Cochran E, Startzell M, Brown RJ

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022; (28(6)):610-614 doi:10.1016/j.eprac.2022.03.006.

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.

Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series.

Zhong ZX, Harris J, Wilber E, et al.

Clinical endocrinology 2022; (97(6)):755-762 doi:10.1111/cen.14806.

Hypertriglyceridemia.

Chait A

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

Acute Pancreatitis: Diagnosis and Treatment.

Szatmary P, Grammatikopoulos T, Cai W, et al.

Drugs 2022; (82(12)):1251-1276 doi:10.1007/s40265-022-01766-4.

Volanesorsen, an antisense oligonucleotide to apolipoprotein C-III, increases lipoprotein lipase activity and lowers triglycerides in partial lipodystrophy.

Lightbourne M, Startzell M, Bruce KD, et al.

Journal of clinical lipidology 2022; (16(6)):850-862 doi:10.1016/j.jacl.2022.06.011.

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.

Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study: Volanesorsen in FPLD; The BROADEN Study.

Oral EA, Garg A, Tami J, et al.

Journal of clinical lipidology 2022; (16(6)):833-849 doi:10.1016/j.jacl.2022.08.008.

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.

Effectiveness of an Intravenous Insulin-Based Treatment Protocol for the Management of Hypertriglyceridemia-Associated Acute Pancreatitis.

Perez V, Faust AC, Taburyanskaya M, et al.

The Journal of pharmacy technology : jPT : official publication of the Association of Pharmacy Technicians 2023; (39(2)):55-61 doi:10.1177/87551225231151570.

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.

Perilipin membrane integration determines lipid droplet heterogeneity in differentiating adipocytes.

Majchrzak M, Stojanović O, Ajjaji D, et al.

Cell reports 2024; (43(4)):114093 doi:10.1016/j.celrep.2024.114093.

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.

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.

Hypertriglyceridemia Results From an Impaired Catabolism of Triglyceride-Rich Lipoproteins in PLIN1-Related Lipodystrophy.

Vergès B, Vantyghem MC, Reznik Y, et al.

Arteriosclerosis, thrombosis, and vascular biology 2024; (44(8)):1873-1883 doi:10.1161/ATVBAHA.124.320774.

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 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.

Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.

Veras VR, da Cruz Paiva Lima GE, da Ponte Melo I, et al.

Diabetology & metabolic syndrome 2024; (16(1)):216 doi:10.1186/s13098-024-01413-w.

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.

Diagnosis and Management of Acute Pancreatitis.

Mittal N, Oza VM, Muniraj T, Kothari TH

Diagnostics (Basel, Switzerland) 2025; (15(3)) doi:10.3390/diagnostics15030258.

Lipodystrophy and severe insulin resistance syndrome: Epidemiological data from a French national rare diseases registry.

Vantyghem MC, Nobécourt E, Vatier C, et al.

Annales d'endocrinologie 2025; (86(4)):101730 doi:10.1016/j.ando.2025.101730.

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.

Epidemiological and clinical data from the European Lipodystrophy Registry.

Ceccarini G, Vatier C, Akinci B, et al.

European journal of endocrinology 2025; (193(5)):685-703 doi:10.1093/ejendo/lvaf214.

Improvement of severe hypertriglyceridemia in atypical subtype 4 partial lipodystrophy with volanesorsen.

Jadrníčková P, Tichý L, Kašpráková M, et al.

Journal of clinical lipidology 2026; (20(2)):444-450 doi:10.1016/j.jacl.2025.11.016.

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.

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.

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.

Beyond triglyceride clearance: rethinking hypertriglyceridemia-associated acute pancreatitis in the apoC-III era.

Chooklin S, Chuklin S

Gastroenterology report 2026; (14()):goag107 doi:10.1093/gastro/goag107.

Dual-Energy X-Ray absorptiometry based differentiation of lipoedema and familial partial lipodystrophy from general obesity in women.

Avci F, Ibrahim S, Simsek A, et al.

Endocrine 2026; (91(1)).