Leiden Expertise Group for Lipodystrophy
Dr Ingrid Jazet, specialist in internal medicine
Dr. Hester Vlaardingerbroek, pediatrician-endocrinologist
Dr. Daniela Barge-Schaapveld, clinical geneticist
Tim Roek, Bsc, PhD student
Website: Lipodystrofie | LUMC
Publications
European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy.
Semple RK, Wabitsch M, Akinci B, Alyaarubi S, Broekema MF, Brown RJ, Ceccarini G, Cecchetti C, Elsayed SM, Fernández-Pombo A, Gambineri A, Jazet IM, Kleinendorst L, Miehle K, Oral EA, Prodam F, Santini F, Savage DB, Ali NS, Sorkina E, Szopa M, Vantyghem MC, Vatier C, Vigouroux C, von Schnurbein J, Araújo-Vilar D.J Intern Med. 2026 Sep 1. doi: 10.1111/joim.70157. Online ahead of print.
Bone phenotype of patients with genetic forms of lipodystrophy: a systematic review of literature.
Kusgozoglu E, Barge-Schaapveld DQCM, Rensen PCN, Roek T, Vlaardingerbroek H, Jazet IM, Appelman-Dijkstra NM.J Clin Endocrinol Metab. 2026 Jul 6:dgag256. doi: 10.1210/clinem/dgag256. Online ahead of print.
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Vulto-van Silfhout AT, Jazet IM, Yzer S, Pas J, Demirdas S, van Rossum EFC, Thiadens AAHJ, van Beek R, Haer-Wigman L, Barge-Schaapveld DQCM, Brasch-Andersen C, Frost S, Bauwens M, De Baere E, Balikova I, Van den Broeck F, Weisz-Hubshman M, Joset P, Miny P, Filges I, Kohl S, De Angeli P, Kühlewein L, Bodenbender JP, Haack T, Poths K, Fernandez-Caballero L, Corton M, Blanco Kelly F, Ayuso C, Martínez-Esteban P, Vissing J, Díaz-Manera J, Straub V, Töpf A, Lin S, Arno G, Macken WL, Spillane J, Ramachandran R, de Vrieze E, van Ham T, Roosing S, Oud MM.Genet Med. 2025 Oct;27(10):101513. doi: 10.1016/j.gim.2025.101513. Epub 2025 Jun 28.
Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.
Wu HW, Van de Peppel IP, Rutten JW, Jukema JW, Aten E, Jazet IM, Koopmann TT, Barge-Schaapveld DQCM, Ajmone Marsan N.J Cardiovasc Dev Dis. 2024 Mar 5;11(3):86. doi: 10.3390/jcdd11030086.
