Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.

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.

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

Aims: LMNA-linked familial partial lipodystrophy type 2 (FPLD2) leads to insulin resistance-associated metabolic complications and cardiovascular diseases. We aimed to characterise the disease phenotype in a cohort of patients carrying an LMNA founder variant.

Methods: We collected clinical and biological data from patients carrying the monoallelic or biallelic LMNA p.