A rapid action plan to improve diagnosis and management of lipodystrophy syndromes.

Lipodystrophy syndromes are rare diseases 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 syndromes are only diagnosed after significant metabolic abnormalities arise. Prompt action by clinical teams may improve disease outcomes in lipodystrophy syndromes. 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 syndromes. The Rapid Action Plan was developed using insights gathered through a series of advisory meetings with clinical experts in lipodystrophy syndromes. A skeleton template was used to facilitate interviews. A consensus document was developed, reviewed, and approved by all experts. Lipodystrophy is a clinical diagnosis. The Rapid Action Plan discusses tools that can help diagnose lipodystrophy syndromes. 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 syndromes is reviewed. The Rapid Action Plan may assist clinical teams with the prompt diagnosis and holistic work-up and management of patients with lipodystrophy syndromes, which may improve outcomes for patients with this rare disease.

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Copyright © 2024 Fourman, Lima, Simha, Cappa, Alyaarubi, Montenegro, Akinci and Santini.

Déclaration de conflit d'intérêts

LF serves as a consultant for Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.) and Thera Technologies and receives grant support to her institution from Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.). JL received a consultancy fee from Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.), is a speaker to Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.), Astra Zeneca, NovoNordisk, and Abbott. VS received a consultancy fee from Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.). MC received a consultancy fee from Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.). SA received a consultancy fee from Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.). RM received a consultancy fee from Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.). BA received a consultancy fee from Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.), has run projects for and/or served as a consultant, board member, steering committee member, and/or speaker to Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.), Alnylam, Regeneron, ThirdRock Ventures, Astra Zeneca, Novonordisk, Boehringer Ingelheim, Sanofi, Bilim Ilac, ARIS, and Servier. FS received a consultancy fee from Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.), has run projects for and/or served as a consultant, board member, steering committee member, and/or speaker to Amryt Pharmaceuticals (wholly owned subsidiary of Chiesi Farmaceutici S.p.A.), Novonordisk, Boehringer Ingelheim, Ely Lilly, Pfizer, Bruno Farmaceutici, and BioItalia.