Volume 52, Issue 1, January 2026, 101719Author links open overlay panel, , , , , , , , Highlights•

Type 2 Familial Partial Lipodystrophy patients have higher cardiovascular risk.

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Traditional risk stratification lacks relevance so new tools are needed.

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Epicardial adipose tissue has been associated with major cardiovascular events.

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Here, it is significantly increased for these patients versus matched controls.

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For these patients, this measurement should be added to CAC scoring.

AbstractAim

Clinical cardiovascular risk scoring and Coronary artery calcification evaluation are lacking in Type 2 Familial Partial Lipodystrophy patients who present higher cardiovascular events and risk factors. The epicardial adipose tissue volume - a visceral adipose tissue which is accumulated during lipodystrophy - is higher in type 2 diabetic patients with coronary artery disease. In this case control study, we assessed epicardial adipose tissue volume as a new marker of interest in these patients.

Methods

Patients with type 2 Familial Partial Lipodystrophy or control patients, in primary prevention for cardiovascular events, were followed up at the University Hospital of La Réunion. Type 2 Familial Partial Lipodystrophy patients undergoing both coronary artery calcification and clinical cardiovascular risk scoring were retrospectively included and paired with control patients for age, sex and body mass index (NCT07090629). The epicardial adipose tissue volume was measured for each of the 126 subjects, with a semi-automated technique using deep learning and AI. Results: Type 2 Familial Partial Lipodystrophy patients displayed significantly higher adipose tissue volume (77 ± 39 cm3) than control subjects at high cardiovascular risk (60 ± 30 cm3; P = 0.010).

Conclusions

we show for the first time patients with Type 2 Familial Partial Lipodystrophy present higher values of epicardial adipose tissue volume, an interesting biomarker to add to coronary artery calcification and clinical scoring.

Introduction

Type 2 Familial Partial Lipodystrophy (FPLD2) is a genetic disease due to the LMNA gene encoding the LAMININE A/C [1], where lipid storage malfunctions, amounting to ectopic, visceral and perivascular fat depots, ultimately leading to early onset diabetes and atherosclerosis [1]. Classical cardiovascular risk scoring tools - clinical tools, coronary artery calcification (CAC) score - lack relevance for these young, insulin resistant patients [2]. Visceral and perivascular adipose tissue accumulation are major risk factors associated with cardiovascular complications [3]. For the myocardium and coronary arteries, it can be appraised by the epicardial adipose tissue (EAT) volume measurement [4]. In the general population, its amount has been associated prospectively with major adverse cardiovascular events (MACE) [5]. By paracrine diffusion of proinflammatory and profibrotic mediators, EAT promotes plaque development in the coronary artery tree and participates in the development of coronary artery disease and atrial fibrillation [6].

Our aim was to see if the EAT volume was higher in primary cardiovascular prevention, FPLD2 patients compared with unrelated subjects at high cardiovascular risk.

Section snippetsResearch design and methods

This ancillary retrospective study was based on the preexisting OMDIABRUN [1] and CAC-RUN projects [7]. The cardiovascular risk of patients with FPLD2 was assessed at the University Hospital Centre of la Reunion from 2017 to 2024. Patients having undergone CAC scoring were then matched with unrelated control patients for age, sex and Body Mass Index (BMI). Inclusion criteria were the following for both groups: patients over 18 years old, with no MACE history. In addition, for the FPLD2 group,

Results

151 patients in primary prevention having undergone CAC scoring were screened. After excluding multiple visits and low pairing score (n = 25), we obtained 63 case – control pairs. Characteristics for the 126 patients are shown in Table 1. Patients’ mean age was 45 years old in both groups, most patients were female (87.5 % in both groups), and the average BMI was 26.5 ± 4.8 kg/m² for FPLD2 patients and 27.6 ± 4.5 kg/m² for control subjects, without significant differences across groups. The

Discussion

Our study is the first to show EAT volume was significantly higher in primary prevention, Reunionese patients with FPLD2 undergoing an individual risk stratification with CAC scoring, compared with paired control subjects.

The Reunionese Island is characterized by a higher incidence of cardiovascular mortality than mainland France, often before 65 years old [9], with coronary artery disease the first chronic disease locally, due to a doubled type 2 diabetes prevalence and more obesity [8]. Due

Conclusion

Our study presents limitations due to its monocentric, cross-sectional design and limited population. However, it is the largest study to show significantly higher EAT volume in a primary prevention, Reunionese population at very high risk of cardiovascular events due to FPLD2, rare genetic disease, compared to matched subjects for age, sex and BMI, also at high cardiovascular risk. This highlights the value of EAT measurement in addition to traditional scoring for future cardiovascular risk

CRediT authorship contribution statement

Mathilde Simonson: Writing – review & editing, Writing – original draft, Validation. Patricia Ancel: Writing – review & editing, Formal analysis. Romain Mortier: Writing – review & editing, Methodology, Formal analysis. Mohamed Lamine Mariko: Writing – review & editing, Data curation. Bénédicte Fontaine: Writing – review & editing, Conceptualization. Julie Koue-Chon-Lim: Writing – review & editing. Jules Martel: Writing – review & editing, Methodology, Formal analysis. Estelle Nobécourt:

Declaration of competing interest

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Acknowledgements

Funding and Assistance. This study was funded by the University Hospital of la Réunion, the University of la Réunion, the Assistance Publique des Hôpitaux de Marseille and the University of Aix Marseille. In addition, the OMDIABRUN project was founded by the Indian Ocean INTERREG V regional grant.

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