Guillaume Treiber, Alice Guilleux, Kevin Huynh, Oriane Bonfanti, Ania Flaus-Furmaniuk, David Couret, Natalie Mellet, Céline Bernard, Nathalie Le-Moullec, Berenice Doray, Isabelle Jéru, Jean-Christophe Maiza, Bhoopendrasing Domun, Muriel Cogne, Olivier Meilhac, Corinne Vigouroux, Peter J Meikle, Estelle Nobécourt
AIM: Subjects with Familial Partial Lipodystrophy type 2 (FPLD2) are at high risk to develop diabetes. To better understand the natural history and variability of this disease, we studied glucose tolerance, insulin response to an oral glucose load, and metabolic markers in the largest cohort to date of subjects with FPLD2 due to the same LMNA variant. METHODS: A total of 102 patients aged > 18 years, with FPLD2 due to the LMNA 'Reunionese' variant p.(Thr655Asnfs*49) and 22 unaffected adult relatives with normal glucose tolerance (NGT) were enrolled...
November 15, 2022: Diabetes & Metabolism