| アブストラクト | BACKGROUND: Lipodystrophy (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. METHODS: EMR 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). RESULTS: The 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). CONCLUSION: LD 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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| ジャーナル名 | Diabetes, metabolic syndrome and obesity : targets and therapy |
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| Pubmed追加日 | 2017/10/27 |
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| 投稿者 | Chiquette, Elaine; Oral, Elif A; Garg, Abhimanyu; Araujo-Vilar, David; Dhankhar, Praveen |
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| 組織名 | Aegerion Pharmaceuticals, Cambridge, MA, USA.;Brehm Center for Diabetes Research and Metabolism, Endocrinology and Diabetes;Division, Department of Internal Medicine, University of Michigan, Ann Arbor, MI,;USA.;Division of Nutrition and Metabolic Diseases, Department of Internal Medicine,;Center for Human Nutrition, University of Texas Southwestern Medical Center,;Dallas, TX, USA.;Department of Medicine, UETeM, CIMUS School of Medicine, University of Santiago;de Compostela, Santiago de Compostela, Spain.;Complete HEOR Solutions (CHEORS), North Wales, PA, USA. |
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| Pubmed リンク | https://www.ncbi.nlm.nih.gov/pubmed/29066925/ |
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