{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:57:06Z","timestamp":1790816226055,"version":"4.1.0"},"reference-count":60,"publisher":"The Endocrine Society","issue":"11","funder":[{"name":"Amryt Pharmaceuticals"},{"name":"Amryt Pharmaceuticals"},{"name":"Amryt Pharmaceuticals"},{"name":"Chiesi Farmaceutici S.p.A"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Lipodystrophy syndromes are rare disorders characterized by deficient adipose tissue, leading to insulin resistance, dyslipidemia, and organ system abnormalities.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Our goal was to develop a lipodystrophy severity score (LDS) to holistically capture the diverse manifestations of lipodystrophy into a numerical score to aid in prediction of clinical outcomes and\/or treatment impact.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>An 8-domain LDS was developed by 8 disease experts in consultation with patient organizations. The LDS was rated for feasibility and content validity by 28 additional clinicians and 9 patient representatives. LDS was compared to the Clinical Global Impression (CGI) of severity for 20 putative patient profiles, each at 2 different time points, and by comparing change in LDS to global impression of change. For external validation, LDS was calculated in 2 cohorts of patients with lipodystrophy treated with metreleptin.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>LDS domains include Diabetes\/Insulin Resistance, Microvascular Complications of Diabetes, Lipids, Cardiovascular, Liver, Kidney, Reproductive, and Other. Each domain is assessed by 1 or more questions assessing both lifetime and recent complications of lipodystrophy. The LDS had high content validity and feasibility and high reliability by intraclass correlation coefficients (&amp;gt;0.95). Global and domain-specific LDS were strongly correlated with CGI, as were changes in scores across visits (R = 0.79-0.99, P &amp;lt; .001 for all). In generalized lipodystrophy, metreleptin significantly reduced LDS (from 46 to 26 at 12 months, P &amp;lt; .001). The reductions were smaller in partial lipodystrophy (from 65 to 61 at 12 months, P = .04).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The LDS can reflect the severity of diverse manifestations of lipodystrophy and monitor changes following interventions.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf103","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T13:13:06Z","timestamp":1739970786000},"page":"3243-3255","source":"Crossref","is-referenced-by-count":12,"title":["Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2589-7382","authenticated-orcid":false,"given":"Rebecca J","family":"Brown","sequence":"first","affiliation":[{"name":"National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8634-4845","authenticated-orcid":false,"given":"Baris","family":"Akinci","sequence":"additional","affiliation":[{"name":"DEPARK, Dokuz Eylul University , Izmir 35330 ,","place":["Turkey"]},{"name":"Technological Research Program, Izmir Biomedicine and Genome Center , Izmir 35330 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matheos","family":"Yosef","sequence":"additional","affiliation":[{"name":"Michigan Institute for Clinical and Health Research, University of Michigan , Ann Arbor, MI 48105 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Phillips","sequence":"additional","affiliation":[{"name":"Global Medical Affairs, Chiesi Farmaceutici , Parma 43122 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shokoufeh","family":"Khalatbari","sequence":"additional","affiliation":[{"name":"Michigan Institute for Clinical and Health Research, University of Michigan , Ann Arbor, MI 48105 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Sorkina","sequence":"additional","affiliation":[{"name":"Clinical Research Facility, The Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne NE1 4LP ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferruccio","family":"Santini","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56124 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[{"name":"Endocrinology Department, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Assistance Publique-H\u00f4pitaux de Paris, Saint-Antoine Hospital , Paris 75012 ,","place":["France"]},{"name":"Inserm U938, Saint-Antoine Research Centre, Cardio-M\u00e9tabolism and Nutrition Institute, Sorbonne University , Paris 75012 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maiah","family":"Brush","sequence":"additional","affiliation":[{"name":"National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasimcan","family":"Meral","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, Michigan Medicine, University of Michigan , Ann Arbor, MI 48105 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Ceccarini","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56124 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mujdat","family":"Zeybel","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, School of Medicine, Koc University , Istanbul 34440 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9660-5335","authenticated-orcid":false,"given":"Flavia","family":"Prodam","sequence":"additional","affiliation":[{"name":"Endocrinology, Department of Translational Medicine, Universit\u00e0 del Piemonte Orientale , Novara 28100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9918-664X","authenticated-orcid":false,"given":"Julia","family":"von Schnurbein","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Center Ulm , Ulm 89081 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian P","family":"Sorice","sequence":"additional","affiliation":[{"name":"Section of Internal Medicine, Endocrinology, Andrology and Metabolic Diseases, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari Aldo Moro , Bari 70121 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merve C","family":"Guler","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, Michigan Medicine, University of Michigan , Ann Arbor, MI 48105 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nivedita","family":"Patni","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center , Dallas, TX 75390 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seher","family":"Tanrikulu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Acibadem Atasehir Hospital , Istanbul 34642 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saif","family":"Alyaarubi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Oman Medical Specialty Board , Muscat 132 ,","place":["Oman"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basak S","family":"Ozgen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Yildirim Beyazit University, Yenimahalle Training Hospital , Ankara 06370 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria C","family":"Foss-Freitas","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, Michigan Medicine, University of Michigan , Ann Arbor, MI 48105 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Secil","family":"Ozisik","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, School of Medicine, Koc University , Istanbul 34440 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benerice","family":"Segrestin","sequence":"additional","affiliation":[{"name":"Endocrinology, Diabetes and Nutrition Department, Lyon South Hospital, Civil Hospices of Lyon , Pierre-B\u00e9nite 49495 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Busra","family":"Ozcan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Ege University , Izmir 35100 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suleyman C","family":"Adiyaman","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Dr. Etzrodt-Walter & Kollegen Endokrinologie Zentrum Ulm , Ulm 89075 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Musolino","sequence":"additional","affiliation":[{"name":"ASST Sette Laghi, S.C. 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,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samim","family":"Ozen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Ege University , Izmir 35100 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9858-2832","authenticated-orcid":false,"given":"Vinaya","family":"Simha","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Mayo Clinic , Rochester, MN 55905 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilgin Y","family":"Simsir","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Ege University , Izmir 35100 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Stears","sequence":"additional","affiliation":[{"name":"National Severe Insulin Resistance Service, Wolfson Diabetes & Endocrine Clinic, 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,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Semple","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Science, University of Edinburgh , Edinburgh EH16 4TJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6795-8430","authenticated-orcid":false,"given":"Martin","family":"Wabitsch","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Center Ulm , Ulm 89081 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Araujo-Vilar","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela , Santiago de Compostela 15706 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A","family":"Hegele","sequence":"additional","affiliation":[{"name":"Department of Medicine and Robarts Research Institute, Western University , London, ON, Canada N6A 5B7"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9171-1144","authenticated-orcid":false,"given":"Elif A","family":"Oral","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, Michigan Medicine, University of Michigan , Ann Arbor, MI 48105 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,2,19]]},"reference":[{"issue":"4","key":"2025101519574912300_dgaf103-B1","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.ecl.2016.06.012","article-title":"Lipodystrophy syndromes","volume":"45","author":"Hussain","year":"2016","journal-title":"Endocrinol Metab Clin North 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