Advanced search
Publication Cover
Current Medical Research and Opinion Volume 35, 2019 - Issue 3
Submit an article Journal homepage
621
Views
20
CrossRef citations to date
0
Altmetric
Cardiovascular

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases

Camille VatierAssistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint-Antoine, Centre de Référence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Service d’Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, Paris, France; ;Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; Correspondence[email protected]
,
Marie-Christine VantyghemCHU Lille, Endocrinologie, Diabétologie, Métabolisme, Centre de Compétence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Lille, France;
,
Caroline StoreyAssistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré, Service d’endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Paris, France; ;Université Paris Diderot, Sorbonne Paris Cité, Paris, France;
,
Isabelle JéruSorbonne Université, Inserm, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; ;Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France;
,
Sophie Christin-MaitreAssistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint-Antoine, Centre de Référence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Service d’Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, Paris, France; ;Sorbonne Université, Inserm, Hôpital Trousseau, Paris, France;
,
Bruno FèveAssistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint-Antoine, Centre de Référence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Service d’Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, Paris, France; ;Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France;
,
Olivier LascolsSorbonne Université, Inserm, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; ;CHU Lille, Endocrinologie, Diabétologie, Métabolisme, Centre de Compétence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Lille, France;
,
Jacques BeltrandAssistance publique-Hôpitaux de Paris, Hôpital Universitaire Necker Enfants Malades, Service d'endocrinologie, gynécologie et diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Faculté de médecine, Paris, France
,
Jean-Claude CarelAssistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré, Service d’endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Paris, France; ;Université Paris Diderot, Sorbonne Paris Cité, Paris, France;
,
Corinne VigourouxAssistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint-Antoine, Centre de Référence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Service d’Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, Paris, France; ;Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; ;Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France;
&
Elise BismuthAssistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré, Service d’endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité (PRISIS), Paris, France; ;Université Paris Diderot, Sorbonne Paris Cité, Paris, France;
show all
Pages 543-552 | Received 25 Apr 2018, Accepted 02 Oct 2018, Published online: 09 Nov 2018

Citations (20)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (2)

Stergios A. Polyzos & Christos S. Mantzoros. (2022) Metreleptin for the treatment of lipodystrophy: leading the way among novel therapeutics for this unmet clinical need. Current Medical Research and Opinion 38:6, pages 885-888.
Read now
Despina D. Briana & Ariadne Malamitsi-Puchner. (2019) Novel adipocytokines and lipodystrophic syndromes. Current Medical Research and Opinion 35:9, pages 1653-1653.
Read now

Articles from other publishers (18)

Junaid Iqbal, Hong-Li Jiang, Hui-Xuan Wu, Long Li, Ying-Hui Zhou, Nan Hu, Fen Xiao, Ting Wang, Shi-Na Xu & Hou-De Zhou. (2023) Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management. Genes & Diseases 10:5, pages 1846-1856.
Crossref
Robert D. Roghair, Tarah T. Colaizy, Baiba Steinbrekera, Réka A. Vass, Erica Hsu, Daniel Dagle & Trassanee Chatmethakul. (2023) Neonatal Leptin Levels Predict the Early Childhood Developmental Assessment Scores of Preterm Infants. Nutrients 15:8, pages 1967.
Crossref
Zubair Hussain, Junaid Iqbal, Hongcai Liu & Hou-De Zhou. (2023) Exploring the role of lipoprotein(a) in cardiovascular diseases and diabetes in Chinese population. International Journal of Biological Macromolecules 233, pages 123586.
Crossref
Xueying Su, Yunting Lin, Li Liu, Huifen Mei, Aijing Xu, Chunhua Zeng, Huiying Sheng, Jing Cheng, Yongxian Shao, Ruidan Zheng, Tzer Hwu Ting, Wen Zhang & Xiuzhen Li. (2023) Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review. Journal of Pediatric Endocrinology and Metabolism 36:1, pages 74-80.
Crossref
Yonglang Cheng, Tongxi Li, Peng Tan, Yichao Du, Zhiwei Huang, Hao Shi, Tianying Cai, Yifan Chen & Wenguang Fu. (2022) Efficacy and safety of the apolipoprotein C-III inhibitor Volanesorsen: a systematic evaluation and meta-analysis. Endocrine 76:2, pages 253-262.
Crossref
H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre, M. De Kerdanet, B. Delemer, E. Disse, N. Dubois, B. Eymard, B. Fève, O. Lascols, P. Mathurin, E. Nobécourt, A. Poujol-Robert, G. Prevost, P. Richard, J. Sellam, I. Tauveron, D. Treboz, B. Vergès, V. Vermot-Desroches, K. Wahbi, I. Jéru, M. C. Vantyghem & C. Vigouroux. (2022) Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins). Orphanet Journal of Rare Diseases 17:S1.
Crossref
Alessandra Antonucci, Antonella Marucci, Vincenzo Trischitta & Rosa Di Paola. (2022) Role of GALNT2 on Insulin Sensitivity, Lipid Metabolism and Fat Homeostasis. International Journal of Molecular Sciences 23:2, pages 929.
Crossref
Julieta Lazarte, Jian Wang, Adam D. McIntyre & Robert A. Hegele. (2021) Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2. Journal of Clinical Lipidology 15:5, pages 653-657.
Crossref
Antonio Atalaia, Rabah Ben Yaou, Karim Wahbi, Annachiara De Sandre-Giovannoli, Corinne Vigouroux & Gisèle Bonne. (2021) Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’. Journal of Neuromuscular Diseases 8:3, pages 419-439.
Crossref
C. Vatier, H. Mosbah, J. Zammouri, B. Donadille, S. Janmaat, O. Lascols, B. Fève, I. Jéru & C. Vigouroux. 2021. Les Obésités. Les Obésités 333 339 .
Angélica María González-Clavijo, Luis Felipe Fierro-Maya, Juan David Muñoz-Loaiza, Daniel Perilla-Roa, Esteban Javier Pérez-Moreno, Jennifer Daniela Guzmán-Rojas & Juan Esteban Herrera-Cardona. (2020) Uso de metformina y un inhibidor de SGLT2 en el manejo de lipodistrofia congénita generalizada. Reporte de caso. Revista de la Facultad de Medicina 68:4.
Crossref
Federica Fogacci, Giuseppe Danilo Norata, Peter P. Toth, Marcello Arca & Arrigo F. G. Cicero. (2020) Efficacy and Safety of Volanesorsen (ISIS 304801): the Evidence from Phase 2 and 3 Clinical Trials. Current Atherosclerosis Reports 22:5.
Crossref
N. Haddad, T. Vidal‐Trecan, B. Baroudjian, A.‐M. Zagdanski, D. Arangalage, M. Battistella, J.‐F. Gautier, C. Lebbe & J. Delyon. (2019) Acquired generalized lipodystrophy under immune checkpoint inhibition. British Journal of Dermatology 182:2, pages 477-480.
Crossref
Camille Sollier, Camille Vatier, Emilie Capel, Olivier Lascols, Martine Auclair, Sonja Janmaat, Bruno Fève, Isabelle Jéru & Corinne Vigouroux. (2020) Lipodystrophic syndromes: From diagnosis to treatment. Annales d'Endocrinologie 81:1, pages 51-60.
Crossref
Camille Desgrouas, Alice-Anaïs Varlet, Anne Dutour, Damien Galant, Françoise Merono, Nathalie Bonello-Palot, Patrice Bourgeois, Adèle Lasbleiz, Cathy Petitjean, Patricia Ancel, Nicolas Levy, Catherine Badens & Bénédicte Gaborit. (2020) Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls. Cells 9:2, pages 310.
Crossref
Yun BaoJingmin YangLu ChenMiaohong ChenPeiquan ZhaoShuiping QiuLu ZhangGuoming Zhang. (2019) A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family . Genetic Testing and Molecular Biomarkers 23:12, pages 850-856.
Crossref
Kevin Selting, Neil J. Hansen & W.L. Harrison. (2019) Massive labial lipomatous hypertrophy in familial partial lipodystrophy seen on computed tomographic angiography. Radiology Case Reports 14:10, pages 1311-1313.
Crossref
Tiantuan Jiang, Xiaochen Shi, Zunqiang Yan, Xin Wang & Shuangbao Gun. (2019) Isoimperatorin enhances 3T3‑L1 preadipocyte differentiation by regulating PPARγ and C/EBPα through the Akt signaling pathway. Experimental and Therapeutic Medicine.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.