BMJ open respiratory research
Clinical characterisation and therapeutic insights from a single-centre cohort of seven patients with Gorham-Stout disease
By Li N, Le X, Xu D and 4 others.
Abstract
Background
Gorham-Stout disease (GSD) is an ultra-rare disorder of progressive osteolysis and lymphatic proliferation, with poorly defined clinical features, optimal imaging and treatment. This study characterises the clinical spectrum, imaging findings and therapeutic responses in a single-centre GSD cohort.
Methods
We retrospectively analysed seven patients with GSD at the National Center for Respiratory Medicine (2019–2024). Data included demographics, clinical presentation, laboratory, pathology, multimodality imaging (CT, bone scintigraphy, 18F-fluorodeoxyglucose (18F-FDG) and 18F-fibroblast activation protein inhibitor (18F-FAPI) positron emission tomography (PET)/CT, lymphoscintigraphy) and follow-up.