French recommendations for the diagnosis and management of lymphangioleiomyomatosis

Background: The present article is an English-language version of the French National Diagnostic and Care Protocol, a pragmatic tool to optimize and harmonize the diagnosis, care pathway, management and follow-up of lymphangioleiomyomatosis in France. Methods: Practical recommendations were developed in accordance with the method for developing a National Diagnosis and Care Protocol for rare diseases of the Haute Autorit ' e de Sant ' e and following international guide-lines and literature on lymphangioleiomyomatosis. It was developed by a multidisciplinary group, with the help of patient representatives and of RespiFIL, the rare disease network on respiratory diseases. Results: Lymphangioleiomyomatosis is a rare lung disease characterised by a proliferation of smooth muscle cells that leads to the formation of multiple lung cysts. It occurs sporadically or as part of a genetic disease called tuberous sclerosis complex (TSC). The document addresses multiple aspects of the disease, to guide the clinicians regarding when to suspect a diagnosis of lymphangioleiomyomatosis, what to do in case of recurrent pneumothorax or angiomyolipomas, what investigations are needed to make the diagnosis of lym-phangioleiomyomatosis, what the diagnostic criteria are for lymphangioleiomyomatosis, what the principles of management are, and how follow-up can be organised. Recommendations are made regarding the use of pharmaceutical specialties and treatment other than medications. Conclusion: These recommendations are intended to guide the diagnosis and practical management of pul-monary lymphangioleiomyomatosis. (c) 2023 SPLF and Elsevier Masson SAS. All rights reserved.

Automated summary

This article presents the English-language version of the French National Diagnostic and Care Protocol for lymphangioleiomyomatosis, a rare lung disease. The protocol provides practical recommendations for diagnosing, managing, and following up with patients. The recommendations cover various aspects of the disease, including diagnosis criteria, management principles, and use of pharmaceutical specialties and treatments.