ArticleDiabetes, metabolic syndrome and obesity : targets and therapy2017
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges.
Article in Diabetes, metabolic syndrome and obesity : targets and therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 3 of them syntheses that pooled it.
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Who cites it
82 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Bone phenotype of patients with genetic forms of lipodystrophy: a systematic review of literature.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Clinical Spectrum ofCells · 2023Pooled it
- Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).Orphanet journal of rare diseases · 2022Guideline
- Efficacy and Safety of Obeticholic Acid for Treating Hepatic Steatosis in Patients With Familial Partial Lipodystrophy.The Journal of clinical endocrinology and metabolism · 2025Trial
- A multicenter, open-label, single-arm trial of the long-term safety of empagliflozin treatment for refractory diabetes mellitus with insulin resistance (EMPIRE-02).Journal of diabetes investigation · 2024Trial
- Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy.Endocrine · 2019Trial
- Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real-Life Experience From a National Reference Network.Diabetes, obesity & metabolism · 2026Article
- 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
- Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks.EBioMedicine · 2026Observational
- A Rare Instance of Concordant Charcot-Marie-Tooth Disease and Familial Partial Lipodystrophy Type 2.Cureus · 2026Article
- Postmarketing Surveillance of the Safety and Effectiveness of Metreleptin in Patients with Lipodystrophy in Japan.Journal of the Endocrine Society · 2026Article
- Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.Frontiers in endocrinology · 2026Article
- Familial partial lipodystrophy type 2 associated with a novel LMNA variant (c.604G>C; p.Glu202Gln): a Colombian family case series.Frontiers in endocrinology · 2026Article
- Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.Diabetology & metabolic syndrome · 2025Review
- The Impact of Neuregulin 4 on Metabolic Dysregulation in Lipodystrophy.Endocrinology · 2025Article
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- The Role of theInternational journal of molecular sciences · 2025Review
- Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.Diabetology & metabolic syndrome · 2025Article
- Safety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: Real-life experience from a national reference network.Diabetes, obesity & metabolism · 2025Article
22 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors.
Funding
Abstract
backgroundLipodystrophy (LD; non-human immunodeficiency virus [HIV]-associated) syndromes are a rare body of disorders for which true prevalence is unknown. Prevalence estimates of rare diseases are important to increase awareness and financial resources. Current qualitative and quantitative estimates of LD prevalence range from ~0.1 to 90 cases/million. We demonstrate an approach to quantitatively estimate LD prevalence (all, generalized, and partial) through a search of 5 electronic medical record (EMR) databases and 4 literature searches.
methodsEMR and literature searches were conducted from 2012 to 2014. For the EMR database searches (Quintiles, IMS LifeLink, General Electric Healthcare, and Humedica EMR), LD cases were identified by the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code 272.6 (United Kingdom General Practice Research Database used other diagnostic codes to identify LD) plus additional LD-associated clinical characteristics (patients with HIV or documented HIV treatment were excluded). Expert adjudication of cases was used for the Quintiles database only. Literature searches (PubMed and EMBASE) were conducted for each of the 4 major LD subtypes. Prevalence estimates were determined by extrapolating the total number of cases identified for each search to the database population (EMR search) and European population (literature search).
resultsThe prevalence range of all LD across all EMR databases was 1.3-4.7 cases/million. For the adjudicated Quintiles search, the estimated prevalence of diagnosed LD was 3.07 cases/million (95% confidence interval [CI], 2.30-4.02), 0.23 cases/million (95% CI, 0.06-0.59) and 2.84 cases/million (95% CI, 2.10-3.75) for generalized lipodystrophy (GL) and partial lipodystrophy (PL), respectively. For all literature searches, the prevalence of all LD in Europe was 2.63 cases/million (0.96 and 1.67 cases/million for GL and PL, respectively).
conclusionLD prevalence estimates are at the lower range of previously established numbers, confirming that LD is an ultra-rare disease. The establishment of diagnostic criteria and coding specific to the 4 major LD subtypes and future studies/patient registries are needed to further refine our estimates.
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