Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 375-383 |
| Number of pages | 9 |
| Journal | Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy |
| Volume | 10 |
| DOIs | |
| State | Published - Sep 13 2017 |
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Keywords
- Adipose tissue
- Atypical diabetes
- Dyslipidemia
- Hypertriglyceridemia
- Insulin resistance
- Lipodystrophy
- Prevalence
ASJC Scopus subject areas
- Internal Medicine
- Pharmacology
Cite this
Estimating the prevalence of generalized and partial lipodystrophy : Findings and challenges. / Chiquette, Elaine; Oral, Elif A.; Garg, Abhimanyu; Araújo-Vilar, David; Dhankhar, Praveen.
In: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy, Vol. 10, 13.09.2017, p. 375-383.Research output: Contribution to journal › Article
}
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
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
UR - http://www.scopus.com/inward/record.url?scp=85032855200&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85032855200&partnerID=8YFLogxK
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 -