Adipose dystrophy, also known as lipodystrophy, is a heterogeneous disease characterized by the complete or partial loss of adipose tissue. In some cases, patients with lipodystrophy may exhibit fat accumulation in other areas of the body, as well as metabolic abnormalities such as insulin resistance, hyperlipidemia, liver disease, and increased metabolic rate. The condition may also be associated with gene mutations, including those in acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2), caveolin-1 (CAV1), polymerase I and transcript release factor (PTRF), lamins A (LMNA), zinc metalloproteinase (ZMPSTE24), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2), perilipin 1 (PLIN1), and proteasome subunit, β-type, 8 (PSMB8). Lipodystrophy can be either congenital or acquired, and it may present as a systemic or localized condition. In this report, we describe a rare case of localized lipodystrophy characterized normal development and partial multifocal fat atrophy. This case aims to enhance clinicians' understanding of the clinical manifestation of this uncommon disease.
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Int J Mol Sci
December 2024
Department of Internal Medicine, Erasmus Medical Center (Erasmus MC), Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Consuming a "modern" Western diet and overnutrition may increase insulin secretion. Additionally, nutrition-mediated hyperinsulinemia is a major driver of ectopic fat deposition. The global prevalence of metabolic syndrome is high and growing.
View Article and Find Full Text PDFCureus
December 2024
Emergency Department, Bahria International Hospital, Rawalpindi, PAK.
This case report presents a rare instance of a 28-year-old female patient with insulin-induced abdominal lipodystrophy, who presented to the emergency department with symptoms of an anxiety attack triggered by body image distress. She was diagnosed with type 1 diabetes at the age of eight years. For the past 10 years, she has been using insulin glargine and insulin lispro, injecting roughly five times per day.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Endocrinology Department, Institut de Recerca Sant Joan de Déu, University of Barcelona, 08950 Esplugues, Barcelona, Spain.
PLoS One
December 2024
Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
Objective: A biallelic missense mutation in mitofusin 2 (MFN2) causes multiple symmetric lipomatosis and partial lipodystrophy, implicating disruption of mitochondrial fusion or interaction with other organelles in adipocyte differentiation, growth and/or survival. In this study, we aimed to document the impact of loss of mitofusin 1 (Mfn1) or 2 (Mfn2) on adipogenesis in cultured cells.
Methods: We characterised adipocyte differentiation of wildtype (WT), Mfn1-/- and Mfn2-/- mouse embryonic fibroblasts (MEFs) and 3T3-L1 preadipocytes in which Mfn1 or 2 levels were reduced using siRNA.
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