Abstract
BackgroundDunnigan type Familial Partial Lipodystrophy (FPLD) is characterized by loss of subcutaneous fat from the limbs and excessive accumulation on the visceral adipose tissue (VAT). Affected individuals have insulin resistance (IR), diabetes, dyslipidemia and early cardiovascular (CV) events, due to their imbalanced distribution of total body fat (TBF). Epicardial adipose tissue (EAT) is correlated with VAT. Hence, EAT could be a new index of cardiac and visceral adiposity with great potential as a marker of CV risk in FPLD.ObjectiveCompare EAT in FPLD patients versus healthy controls. Moreover, we aimed to verify if EFT is related to anthropometrical (ATPM) and Dual-Energy X-ray Absorptiometry (DEXA) measures, as well as laboratory blood findings. We postulated that FPLD patients have enlarged EAT.MethodsThis is an observational, cross-sectional study. Six patients with a confirmed mutation in the LMNA gene for FPLD were enrolled in the study. Six sex, age and BMI-matched healthy controls were also selected. EFT was measured by transthoracic echocardiography (ECHO). All participants had body fat distribution evaluated by ATPM and by DEXA measures. Fasting blood samples were obtained for biochemical profiles and also for leptin measurements.ResultsMedian EFT was significantly higher in the FPLD group than in matched controls (6.0 ± 3.6 mm vs. 0.0 ± 2.04 mm; p = 0.0306). Additionally, FPLD patients had lower leptin values. There was no significant correlation between EAT and ATPM and DEXA measurements, nor laboratory findings.ConclusionsThis study demonstrates, for the first time, that EAT measured by ECHO is increased in FPLD patients, compared to healthy controls. However, it failed to prove a significant relation neither between EAT and DEXA, ATPM or laboratory variables analyzed.
Highlights
Lipodystrophies (LD) are clinically heterogeneous acquired or inherited disorders characterized by generalized or partial loss of adipose tissue [1]
Median epicardial fat tissue (EFT) was significantly higher in the Familial Partial Lipodystrophy (FPLD) group than in matched controls (6.0 ± 3.6 mm vs. 0.0 ± 2.04 mm; p = 0.0306)
There was no significant correlation between Epicardial adipose tissue (EAT) and ATPM and Dual-Energy X-ray Absorptiometry (DEXA) measurements, nor laboratory findings
Summary
Lipodystrophies (LD) are clinically heterogeneous acquired or inherited disorders characterized by generalized or partial loss of adipose tissue [1]. Familial Partial Lipodystrophy, Dunnigan variety (FPLD) is a rare autosomal dominant disorder due to missense mutations in the lamin A/C gene It is phenotypically characterized by the gradual loss of subcutaneous (SC) fat from the extremities and trunk, starting in puberty, with a selective. FPLD patients have marked IR with glucose intolerance (GI) or diabetes (DM), dyslipidemia, hepatic steatosis (HS), acanthosis nigricans and a high risk of cardiovascular (CV) disease. Such risk is similar to that described for visceral obesity, which is associated with the development of metabolic syndrome (MS) and its increased CV morbidity and mortality [2,3].
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