Research & Literature

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

George S, Rochford JJ, Wolfrum C, et al.

Science (New York, N.Y.) 2004; (304(5675)):1325-8 doi:10.1126/science.1096706.

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.

Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A.

Andre P, Schneebeli S, Vigouroux C, et al.

American heart journal 2015; (169(4)):587-93.

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.

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.

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.

AKT/PKB Signaling: Navigating the Network.

Manning BD, Toker A

Cell 2017; (169(3)):381-405 doi:10.1016/j.cell.2017.04.001.

Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia.

Minic M, Rocha N, Harris J, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(8)):2914-2921 doi:10.1210/jc.2017-00768.

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.

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.

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.

Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease.

Hussain I, Patni N, Garg A

Pathology 2019; (51(2)):202-212 doi:10.1016/j.pathol.2018.11.004.

Phenotypic diversity and glucocorticoid sensitivity in patients with familial partial lipodystrophy type 2.

Resende ATP, Martins CS, Bueno AC, et al.

Clinical endocrinology 2019; (91(1)):94-103 doi:10.1111/cen.13984.

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.

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.

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.

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.

A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.

Treiber G, Flaus Furmaniuk A, Guilleux A, et al.

European journal of endocrinology 2021; (185(4)):453-462.

Akt Isoforms: A Family Affair in Breast Cancer.

Basu A, Lambring CB

Cancers 2021; (13(14)) doi:10.3390/cancers13143445.

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.

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.

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.

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.

Facial Dysmorphic Features in a Patient With Nonketotic Hypoglycemia and a Pathogenic Variant in the AKT2 Gene.

Ochoa Molina MF, Poggi H, De Toro V, et al.

AACE clinical case reports 2022; (8(3)):109-112 doi:10.1016/j.aace.2021.11.006.

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.

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.

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.

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.

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.

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.

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.

Treatment of hypoglycemia due to a rare pathogenic variant in AKT2 with waxy maize heat-modified starch.

Parker M, Yau D

Clinical case reports 2024; (12(2)):e8473 doi:10.1002/ccr3.8473.

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.

Labia Majora Hypertrophy in a Patient Affected by Familial Partial Lipodystrophy Type 5: A Case Report on Diagnosis, Presentation, and Surgical Correction.

Margara A, Ponti V, Amendola F

Aesthetic plastic surgery 2025; (49(5)):1585-1587 doi:10.1007/s00266-024-03863-z.

Influence of diet and body weight in treatment-resistant acquired partial lipodystrophy after hematopoietic stem cell transplantation and its potential for metabolic improvement.

Ishida E, Horiguchi K, Matsumoto S, et al.

Diabetology international 2024; (15(2)):290-296 doi:10.1007/s13340-023-00674-6.

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.

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.

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 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.

Acquired Partial Lipodystrophy: Clinical Management in a Pregnant Patient.

Romanisio M, Bighetti L, Daffara T, et al.

Journal of the Endocrine Society 2024; (8(12)):bvae181 doi:10.1210/jendso/bvae181.

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.

Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy.

Brown RJ, Akinci B, Yosef M, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(11)):3243-3255 doi:10.1210/clinem/dgaf103.

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.

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.

Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment.

Gilio D, Foss-Freitas M, Oral EA

Current diabetes reports 2025; (25(1)):47 doi:10.1007/s11892-025-01603-4.

Calf skinfold measurements as a diagnostic tool for lipodystrophy syndromes: a cross-sectional study.

da Cruz Paiva Lima GE, de Moura Lopes FK, Araújo JS, et al.

Diabetology & metabolic syndrome 2025; (17(1)):388 doi:10.1186/s13098-025-01934-y.

Coincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy.

Krienke M, Schmidt HHJ, Buettner J, et al.

JCEM case reports 2025; (3(12)):luaf265 doi:10.1210/jcemcr/luaf265.

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.

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.

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.

Unraveling the natural history of lipodystrophy syndromes: insights from the prospective LD-Lync study.

Celik Guler M, Foss-Freitas MC, Simsir IY, et al.

Journal of the Endocrine Society 2026; (10(8)):bvag155 doi:10.1210/jendso/bvag155.