ReviewCurrent diabetes reports2018
Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities.
Review in Current diabetes reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 106 citations in OpenAlex.
- Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study.Lipids in health and disease · 2021Trial
- The transcription elongation factors Spt4 and Spt6 promote dermal adipocyte differentiation.Adipocyte · 2026Article
- Review
- Lipodystrophy in Central Asia: A Regional Literature Review with a Case Series of Congenital and Acquired Generalized Lipodystrophy.Metabolites · 2026Article
- Unraveling the natural history of lipodystrophy syndromes: insights from the prospective LD-Lync study.Journal of the Endocrine Society · 2026Article
- Hematopoietic stem cell transplantation-associated partial lipodystrophy.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Review
- Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.Cureus · 2026Article
- Liver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?Life (Basel, Switzerland) · 2026Article
- Assessment of bone density and microarchitecture in patients with familial partial lipodystrophy.Frontiers in endocrinology · 2026Article
- Liraglutide use in congenital generalized lipodystrophy: glycemic and metabolic outcomes.Frontiers in endocrinology · 2026Article
- Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment.Current diabetes reports · 2025Review
- Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.Current diabetes reports · 2025Review
- Changes After Leptin Administration in Partial Lipodystrophy and Factors Associated With Hepatic and Metabolic Response.Journal of the Endocrine Society · 2025Article
- Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.Diabetology & metabolic syndrome · 2025Article
- Assessment of aortomesenteric distance and mesenteric and retroperitoneal adipose tissue thickness in genetic forms of lipodystrophy.Journal of endocrinological investigation · 2025Article
- A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.Scientific reports · 2024Article
- Acquired Partial Lipodystrophy: Clinical Management in a Pregnant Patient.Journal of the Endocrine Society · 2024Review
- Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey.Orphanet journal of rare diseases · 2024Article
- Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThis article focuses on recent progress in understanding the genetics of lipodystrophy syndromes, the pathophysiology of severe metabolic abnormalities caused by these syndromes, and causes of severe morbidity and a possible signal of increased mortality associated with lipodystrophy. An updated classification scheme is also presented. RECENT
findingsLipodystrophy encompasses a group of heterogeneous rare diseases characterized by generalized or partial lack of adipose tissue and associated metabolic abnormalities including altered lipid metabolism and insulin resistance. Recent advances in the field have led to the discovery of new genes associated with lipodystrophy and have also improved our understanding of adipose biology, including differentiation, lipid droplet assembly, and metabolism. Several registries have documented the natural history of the disease and the serious comorbidities that patients with lipodystrophy face. There is also evolving evidence for increased mortality rates associated with lipodystrophy. Lipodystrophy syndromes represent a challenging cluster of diseases that lead to severe insulin resistance, a myriad of metabolic abnormalities, and serious morbidity. The understanding of these syndromes is evolving in parallel with the identification of novel disease-causing mechanisms.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.