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      Massive labial lipomatous hypertrophy in familial partial lipodystrophy seen on computed tomographic angiography

      , BS, , MD * , , MD

      Radiology Case Reports

      Elsevier

      Lipomatous hypertrophy, Familial partial lipodystrophy, CTA

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          Abstract

          We present a 28-year-old female with a rare familial partial lipodystrophy. Originally presenting at the age of 14, she began experiencing hypertrophy of the fat in the mons pubis and labia majora regions. By the age of 24 she had disfiguring hypertrophy of these areas with severe fatty overgrowth, similar in nature to that experienced by her father and paternal grandmother. During her workup and planning for suction lipectomy, she underwent computed tomography angiography with the imaging manifestation of severe massive subcutaneous fat hypertrophy; the imaging appearance was only able to be explained after a thorough review of the patient's history and medical literature.

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          Most cited references 11

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          Evaluation of epicardial adipose tissue in familial partial lipodystrophy

          Background Dunnigan 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. Objective Compare 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. Methods This 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. Results Median 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. Conclusions This 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.
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            Effects of metreleptin on proteinuria in patients with lipodystrophy

             HL Lee,  MA Waldman,  S. AUH (2019)
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              NAFLD in lipodystrophy

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                Author and article information

                Contributors
                Journal
                Radiol Case Rep
                Radiol Case Rep
                Radiology Case Reports
                Elsevier
                1930-0433
                22 August 2019
                October 2019
                22 August 2019
                : 14
                : 10
                : 1311-1313
                Affiliations
                University of Nebraska College of Medicine, Department of Radiology, 981045 Nebraska Medical Center, Omaha, NE 68198-1045
                Author notes
                [* ]Corresponding Author. njhansen@ 123456unmc.edu
                Article
                S1930-0433(19)30271-7
                10.1016/j.radcr.2019.08.007
                6727031
                © 2019 The Authors

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                Categories
                Multisystem

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