A rapid action plan to improve diagnosis and management of lipodystrophy

Lindsay Fourman; Josivan Lima; Vinaya Simha; Marco Cappa; Saif Alyaarubi; Jr Renan Montenegro; Baris Akinci; Ferruccio Santini

doi:10.1530/endoabs.99.EP1212

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

ECE2024 Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (383 abstracts)

A rapid action plan to improve diagnosis and management of lipodystrophy

Lindsay Fourman ¹ , Josivan Lima ² , Vinaya Simha ³ , Marco Cappa ⁴ , Saif Alyaarubi ⁵ , Renan Montenegro Jr ⁶ , Baris Akinci ⁷ & Ferruccio Santini ⁸

Err

Author affiliations

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.