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Facial lipoatrophy, a sign of normal aging, also occurs due to lipodystrophy from metabolic disorders affecting lipogenesis. It can be hereditary or acquired, localized or generalized. In HIV patients, prolonged antiretroviral therapy (ART) is a major cause, affecting around 55% of patients with 47% experiencing facial lipoatrophy.
View Article and Find Full Text PDFGenomic and Bioinformatics Analysis of Familial Partial Lipodystrophy Type 3 Identified in a Patient with Novel PPARγ Mutation and Robust Response to Pioglitazone.
Int J Mol Sci
November 2024
Adult Endocrinology and Diabetes, Jazan Endocrinology & Diabetes Center, Ministry of Health, Jazan 82723, Saudi Arabia.
Article Synopsis
- - Familial partial lipodystrophies (FPLDs) are rare genetic disorders that cause loss of fat tissue in certain body areas, with FPLD type 3 linked to mutations in the PPARγ gene.
- - A case study examined a Saudi female with FPLD3, showing severe health issues like uncontrolled diabetes and pancreatitis, and her condition improved significantly after treatment with the drug Pioglitazone.
- - Genetic analysis identified a novel pathogenic mutation in the PPARγ gene, which likely enhances the protein's ability to bind with Pioglitazone, leading to better patient outcomes and expanding the understanding of FPLD3 mutations.
Seipin Deficiency Leads to Energy Dyshomeostasis via Inducing Hypothalamic Neuroinflammation and Aberrant Expression of Neuropeptides.
Neuromolecular Med
May 2024
School of Basic Medical Sciences, Shanxi Medical University, Taiyuan, 030001, Shanxi, China.
Seipin is a key regulator of lipid metabolism, the deficiency of which leads to severe lipodystrophy. Hypothalamus is the pivotal center of brain that modulates appetite and energy homeostasis, where Seipin is abundantly expressed. Whether and how Seipin deficiency leads to systemic metabolic disorders via hypothalamus-involved energy metabolism dysregulation remains to be elucidated.
View Article and Find Full Text PDFSpontaneous Remission of Acquired Generalized Lipodystrophy Presenting in the Postpartum Period.
JCEM Case Rep
February 2024
Atlantic Medical Group, Atlantic Health System, Morristown, NJ 07960, USA.
Acquired generalized lipodystrophy (AGL) is a rare condition characterized by the diffuse loss of adipose tissue resulting in hyperglycemia, severe insulin resistance, and sequelae of metabolic disease. Here, we report the case of a 32-year-old woman who developed uncontrolled hyperglycemia and significant weight loss within 2 months postpartum. Upon endocrine evaluation, she was found to have generalized loss of adiposity, hypoleptinemia, and persistent hyperglycemia despite aggressive insulin administration.
View Article and Find Full Text PDFGenotype-stratified treatment for monogenic insulin resistance: a systematic review.
Commun Med (Lond)
October 2023
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
Background: Monogenic insulin resistance (IR) includes lipodystrophy and disorders of insulin signalling. We sought to assess the effects of interventions in monogenic IR, stratified by genetic aetiology.
Methods: Systematic review using PubMed, MEDLINE and Embase (1 January 1987 to 23 June 2021).
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