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Endocrine Abstracts (2024) 99 EP1212 | DOI: 10.1530/endoabs.99.EP1212

1Massachusetts General Hospital and Harvard Medical School, Metabolism Unit, Boston, MA, United States; 2Hospital Universitário Onofre Lopes, Universidade Federal do Rio Grande do Norte, Departamento de Clinica Medica, Natal-RN, Brazil; 3Mayo Clinic, Division of Endocrinology, Rochester, MN, United States; 4Bambino Gesù Children’s Hospital, IRCCS, Research Area for Innovative Therapies in Endocrinology, Rome, Italy; 5Oman Medical Specialty Board, Pediatric Endocrinology, Muscat, Oman; 6Federal University of Ceará, Department of Clinical Medicine, Fortaleza, Brazil; 7DEPARK & Izmir Biomedicine and Genome Center, Izmir, Turkey; 8University Hospital of Pisa, Obesity and Lipodystrophy Center, Endocrinology Unit, Pisa, Italy


Introduction: Lipodystrophy is a rare disease that can present with a broad range of symptoms. Delays in diagnosis are common, which in turn, may predispose to the development of severe metabolic complications and end-organ damage. Many patients with lipodystrophy are only diagnosed after significant metabolic abnormalities arise.

Aim: Prompt action by clinical teams may improve disease outcomes in lipodystrophy. The aim of the Rapid Action Plan is to serve as a set of recommendations from experts that can support clinicians with limited experience in lipodystrophy.

Methods: The Rapid Action Plan was developed using insights gathered through a series of advisory meetings with clinical experts in lipodystrophy. A skeleton template was used to facilitate interviews. A consensus document was developed, reviewed, and approved by all experts.

Results: Lipodystrophy is a clinical diagnosis. The Rapid Action Plan discusses tools that can help diagnose lipodystrophy. The roles of clinical and family history, physical exam, patient and family member photos, routine blood tests, leptin levels, skinfold measurements, imaging studies, and genetic testing are explored. Additional topics such as communicating the diagnosis to the patients/families and patient referrals are covered. A set of recommendations regarding screening and monitoring for metabolic diseases and end-organ abnormalities is presented. Finally, the treatment of lipodystrophy is reviewed.

Discussion: The Rapid Action Plan may assist clinical teams with the prompt diagnosis and holistic work-up and management of patients with lipodystrophy, which may improve outcomes for patients with this rare disease.

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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