Lipoatrophic diabetes is characterized by: complete lack of subcutaneous fattissue (generalized lipodystrophy), insulin resistant diabetes mellitus, hepatosplenomegaly, excessive hyperthyroidism, elevated basal metabolic note without hyperthyroidism. Recently, "cystic" alterations in the bone have been described as a possible further characteristic. The case of a young woman, now aged 21, who has had generalized lipodystrophy for 17 years and overt diabetes mellitus for 6 years is reported.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
A very low carbohydrate diet improved metabolic profile in congenital generalized lipodystrophy type 4.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: A 17-year-old girl presented with recurrent attacks of acute pancreatitis, associated with severe hyperglycemia and hypertriglyceridemia, despite being on intensive insulin therapy for the last 10 years. She had severe acanthosis nigricans, generalized loss of subcutaneous fat and prominent veins over extremities. The serum levels of glucose and triglyceride did not reduce significantly, even with maximally tolerated doses of metformin (2 g), pioglitazone (45 mg) and fenofibrate (160 mg), not uncommonly seen in poor rural families in West Bengal, India.
View Article and Find Full Text PDFBackground: Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy, GL) or partial (partial lipodystrophy, PL; i.e.
View Article and Find Full Text PDFSiblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFPembrolizumab-induced acquired lipodystrophy: a case report and review of the literature.
Melanoma Res
December 2024
Department of Medicine, School of Medicine, University of Utah.
Acquired generalized lipodystrophy (AGL) is a rare complication of immune checkpoint inhibitors (ICIs) and is associated with immune-mediated loss of adipose tissue, peripheral resistance to insulin, and serious metabolic complications. Here we report a new case of ICI-induced AGL and provide an updated literature review of published cases. We report a 39-year-old female patient treated with adjuvant pembrolizumab for stage IIIC nevoid melanoma with ICI-induced AGL.
View Article and Find Full Text PDFHealth-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy.
J Clin Endocrinol Metab
December 2024
Université Paris Cité, ECEVE UMR 1123, INSERM, Paris, France.
Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.
Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!