Chiquette Elaine, Oral Elif A, Garg Abhimanyu, Araújo-Vilar David, Dhankhar Praveen
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.
Diabetes Metab Syndr Obes. 2017 Sep 13;10:375-383. doi: 10.2147/DMSO.S130810. eCollection 2017.
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.
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).
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).
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.
脂肪营养不良（LD；非人类免疫缺陷病毒[HIV]相关）综合征是一组罕见疾病，其真实患病率未知。罕见病的患病率估计对于提高认知度和获取财政资源很重要。目前对LD患病率的定性和定量估计范围为每百万人口约0.1至90例。我们展示了一种通过搜索5个电子病历（EMR）数据库和进行4次文献检索来定量估计LD患病率（包括所有类型、全身性和部分性）的方法。
在2012年至2014年期间进行了EMR和文献检索。对于EMR数据库检索（昆泰公司、艾美仕生命链接、通用电气医疗集团和医脉通EMR），通过国际疾病分类第九版临床修订本（ICD - 9 - CM）编码272.6识别LD病例（英国全科医学研究数据库使用其他诊断编码来识别LD），并附加与LD相关的临床特征（排除感染HIV或有HIV治疗记录的患者）。仅对昆泰数据库的病例进行专家判定。对4种主要LD亚型分别进行文献检索（PubMed和EMBASE）。患病率估计是通过将每次检索识别出的病例总数外推到数据库人群（EMR检索）和欧洲人群（文献检索）来确定的。
所有EMR数据库中所有LD的患病率范围为每百万人口1.3至4.7例。对于经判定的昆泰检索，全身性脂肪营养不良（GL）和部分性脂肪营养不良（PL）的确诊LD估计患病率分别为每百万人口3.07例（95%置信区间[CI]，2.30 - 4.02）、0.23例（95% CI，0.06 - 0.59）和2.84例（95% CI，2.10 - 3.75）。对于所有文献检索，欧洲所有LD的患病率为每百万人口2.63例（GL和PL分别为0.96例和1.67例）。
LD患病率估计处于先前确定数字的较低范围，证实LD是一种超罕见疾病。需要建立针对4种主要LD亚型的诊断标准和编码，以及开展未来研究/患者登记，以进一步完善我们的估计。
