Estimating the prevalence of generalized and partial lipodystrophy

Findings and challenges

Elaine Chiquette, Elif A. Oral, Abhimanyu Garg, David Araújo-Vilar, Praveen Dhankhar

Research output: Contribution to journalArticle

12 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)375-383
Number of pages9
JournalDiabetes, Metabolic Syndrome and Obesity: Targets and Therapy
Volume10
DOIs
StatePublished - Sep 13 2017

Fingerprint

Congenital Generalized Lipodystrophy
Electronic Health Records
Databases
Lipodystrophy
International Classification of Diseases
Confidence Intervals
Rare Diseases
HIV
PubMed
General Practice
Population
Registries

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 journalArticle

Chiquette, Elaine ; Oral, Elif A. ; Garg, Abhimanyu ; Araújo-Vilar, David ; Dhankhar, Praveen. / Estimating the prevalence of generalized and partial lipodystrophy : Findings and challenges. In: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy. 2017 ; Vol. 10. pp. 375-383.
@article{6633c245d77746e2b06aeb9855994e45,
title = "Estimating the prevalence of generalized and partial lipodystrophy: Findings and challenges",
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.",
keywords = "Adipose tissue, Atypical diabetes, Dyslipidemia, Hypertriglyceridemia, Insulin resistance, Lipodystrophy, Prevalence",
author = "Elaine Chiquette and Oral, {Elif A.} and Abhimanyu Garg and David Ara{\'u}jo-Vilar and Praveen Dhankhar",
year = "2017",
month = "9",
day = "13",
doi = "10.2147/DMSO.S130810",
language = "English (US)",
volume = "10",
pages = "375--383",
journal = "Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy",
issn = "1178-7007",
publisher = "Dove Medical Press Ltd.",

}

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

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 -