Increased epicardial adipose tissue is part of the phenotype of LMNA-associated partial lipodystrophy and could contribute to increased cardiovascular risk.

LMNA-associated familial partial lipodystrophy (FPLD2) is characterized by limb lipoatrophy, cervicofacial and visceral abdominal lipohypertrophy, insulin resistance-related complications and early coronary artery disease (CAD), but epicardial adipose tissue (EAT) is poorly described. We aimed to characterize EAT as a potential new marker of cardiovascular risk in patients with FPLD2. Using a validated deep-learning algorithm, we measured EAT volume from cardiac CT-scans routinely performed for coronary artery calcium (CAC) scoring in patients with FPLD2 (n = 26, 24 women, 65 % with diabetes, median age 49 [32;57] years) compared to patients with type-2 diabetes (T2D) (n = 44, 40 women, age 49 [41;59], p = 0.18). Although lower BMI (23.3 [21;26.6] vs. 27.2 [24.7;29.6], P = 0.03) and HbA1c (6.5 [5.8;7.7] vs. 7.8 [7;8.5] %, P = 0.003) in patients with FPLD2 vs. T2D, EAT volume (110 [72;150] vs. 60 [42;78] ml, P < 0.001) and prevalence of CAD (19 vs. 2 %, P = 0.003) were higher. EAT was positively related to CAC score in the FPLD2 group. Our findings support that EAT is increased in patients with FPLD2 and represents a specific ectopic adipose tissue which could contribute to the increased cardiovascular risk.