Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges
Elaine Chiquette,1 Elif A Oral,2 Abhimanyu Garg,3 David Araújo-Vilar,4 Praveen Dhankhar5 1Aegerion Pharmaceuticals, Cambridge, MA, USA; 2Brehm Center for Diabetes Research and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan, Ann Arb...
Guardado en:
| Autores principales: | , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Dove Medical Press
2017
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/84500cf4e14d4d949b372aa373f4ab63 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:84500cf4e14d4d949b372aa373f4ab63 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:84500cf4e14d4d949b372aa373f4ab632021-12-02T02:44:13ZEstimating the prevalence of generalized and partial lipodystrophy: findings and challenges1178-7007https://doaj.org/article/84500cf4e14d4d949b372aa373f4ab632017-09-01T00:00:00Zhttps://www.dovepress.com/estimating-the-prevalence-of-generalized-and-partial-lipodystrophy-fin-peer-reviewed-article-DMSOhttps://doaj.org/toc/1178-7007Elaine Chiquette,1 Elif A Oral,2 Abhimanyu Garg,3 David Araújo-Vilar,4 Praveen Dhankhar5 1Aegerion Pharmaceuticals, Cambridge, MA, USA; 2Brehm Center for Diabetes Research and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA; 3Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX, USA; 4Department of Medicine, UETeM, CIMUS School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain; 5Complete HEOR Solutions (CHEORS), North Wales, PA, USA 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, prevalenceChiquette EOral EAGarg AAraújo-Vilar DDhankhar PDove Medical Pressarticleadipose tissuediabeteshypertriglyceridemiainsulin resistancelipodystrophyprevalenceSpecialties of internal medicineRC581-951ENDiabetes, Metabolic Syndrome and Obesity: Targets and Therapy, Vol Volume 10, Pp 375-383 (2017) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
adipose tissue diabetes hypertriglyceridemia insulin resistance lipodystrophy prevalence Specialties of internal medicine RC581-951 |
| spellingShingle |
adipose tissue diabetes hypertriglyceridemia insulin resistance lipodystrophy prevalence Specialties of internal medicine RC581-951 Chiquette E Oral EA Garg A Araújo-Vilar D Dhankhar P Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges |
| description |
Elaine Chiquette,1 Elif A Oral,2 Abhimanyu Garg,3 David Araújo-Vilar,4 Praveen Dhankhar5 1Aegerion Pharmaceuticals, Cambridge, MA, USA; 2Brehm Center for Diabetes Research and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA; 3Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX, USA; 4Department of Medicine, UETeM, CIMUS School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain; 5Complete HEOR Solutions (CHEORS), North Wales, PA, USA 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 |
| format |
article |
| author |
Chiquette E Oral EA Garg A Araújo-Vilar D Dhankhar P |
| author_facet |
Chiquette E Oral EA Garg A Araújo-Vilar D Dhankhar P |
| author_sort |
Chiquette E |
| title |
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges |
| title_short |
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges |
| title_full |
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges |
| title_fullStr |
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges |
| title_full_unstemmed |
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges |
| title_sort |
estimating the prevalence of generalized and partial lipodystrophy: findings and challenges |
| publisher |
Dove Medical Press |
| publishDate |
2017 |
| url |
https://doaj.org/article/84500cf4e14d4d949b372aa373f4ab63 |
| work_keys_str_mv |
AT chiquettee estimatingtheprevalenceofgeneralizedandpartiallipodystrophyfindingsandchallenges AT oralea estimatingtheprevalenceofgeneralizedandpartiallipodystrophyfindingsandchallenges AT garga estimatingtheprevalenceofgeneralizedandpartiallipodystrophyfindingsandchallenges AT araujovilard estimatingtheprevalenceofgeneralizedandpartiallipodystrophyfindingsandchallenges AT dhankharp estimatingtheprevalenceofgeneralizedandpartiallipodystrophyfindingsandchallenges |
| _version_ |
1718402174736662528 |