TY - JOUR
T1 - Estimating the prevalence of generalized and partial lipodystrophy
T2 - Findings and challenges
AU - Chiquette, Elaine
AU - Oral, Elif A.
AU - Garg, Abhimanyu
AU - Araújo-Vilar, David
AU - Dhankhar, Praveen
N1 - Funding Information:
EC is an employee and stockholder of Aegerion Pharmaceuticals. EAO has worked as a consultant/advisor to and has received grant/drug support from Amylin, Bristol-Myers Squibb, AstraZeneca, and Aegerion Pharmaceuticals (manufacturers of metreleptin through the years); Akcea Therapeutics; and Ionis Pharmaceuticals. Unrelated to the field of LD, EAO has received nonmaterial support from Boehringer Ingelheim and grant support from GI Dynamics. EAO is partially supported by R01 DK088114. AG has received research support from Aegerion Pharmaceuticals and Ionis Pharmaceuticals and has worked as a consultant for Aegerion Pharmaceuticals, Biomedical Insights, ClearView Healthcare Partners, Gerson Lehrman Group, and Smith-Solve. DA-V has nothing to disclose. PD is an employee of Complete HEOR Solutions, which has done contract work for Aegerion Pharmaceuticals. The authors report no other conflicts of interest in this work.
Funding Information:
Robert Schupp, PharmD, CMPP, of inScience Communications, Springer Healthcare (Philadelphia, PA, USA), provided medical writing support funded by Aegerion Pharmaceuticals. Some of the data from this paper were presented in an abstract/poster form at the 2016 European Conference on Rare Diseases & Orphan Products in Edinburgh, Scotland; the 2015 American Diabetes Association Annual Meeting in Boston, MA; and the 2015 International Society for Phar-macoeconomics and Outcomes Research Annual Meeting in Philadelphia, PA. Funding of the study and development of the paper were supported by Aegerion Pharmaceuticals.
PY - 2017/9/13
Y1 - 2017/9/13
N2 - 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.
AB - 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.
KW - Adipose tissue
KW - Atypical diabetes
KW - Dyslipidemia
KW - Hypertriglyceridemia
KW - Insulin resistance
KW - Lipodystrophy
KW - Prevalence
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U2 - 10.2147/DMSO.S130810
DO - 10.2147/DMSO.S130810
M3 - Article
C2 - 29066925
AN - SCOPUS:85032855200
VL - 10
SP - 375
EP - 383
JO - Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
JF - Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
SN - 1178-7007
ER -