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Peer-reviewedCC BY-NC 4.0BMJ Open Respiratory Research

Clinical characterisation and therapeutic insights from a single-centre cohort of seven patients with Gorham-Stout disease

  • Naijian Li1
  • Xiang Le2
  • Dawei Xu3
  • Yunxiang Zeng4
  • Xinlu Wang5
  • Jinlin Wang4
  • Zhexue Hao6
6 affiliations
  1. 1Department of Allergy and Clinical Immunology, Guangzhou Medical College First Affiliated Hospital, Guangzhou, Guangdong, China
  2. 2The Sixth School of Clinical Medicine, the Affiliated Qingyuan Hospital (Qingyuan People’s Hospital), Guangzhou Medical University, Guangzhou, Guangdong, China
  3. 3The Sixth Clinical School, The Sixth School of Clinical Medicine, the Affiliated Qingyuan Hospital (Qingyuan People’s Hospital), Guangzhou Medical University, Guangzhou, Guangdong, China
  4. 4Pulmonary and Critical Care Medicine, Guangzhou Medical College First Affiliated Hospital, Guangzhou, Guangdong, China
  5. 5Department of Nuclear Medicine, Guangzhou Medical College First Affiliated Hospital, Guangzhou, Guangdong, China
  6. 6Department of Thoracic Surgery, Guangzhou Medical College First Affiliated Hospital, Guangzhou, Guangdong, China
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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.

Results: Patients (six males, one female; median age 27 years) commonly presented with dyspnoea (5/7) and universal pleural effusion (7/7, including four chylothoraces). Extensive osteolysis (ribs, spine, pelvis) occurred without significant bone pain in most cases. 18F-FAPI PET/CT showed intense uptake (maximum standardised uptake value (SUVmax) 4.0–17.6) in lesions, superior to 18F-FDG PET/CT (SUVmax<2.5 in 6/7). Lymphoscintigraphy confirmed central lymphatic leakage in all tested patients. Histopathology revealed D2-40-positive lymphatic proliferation. Individualised treatment included sirolimus (one patient, clinical and radiological improvement), alendronate (one patient, stable disease) and supportive care (five patients, symptomatic improvement over a 15-month median follow-up).

Conclusions: GSD often presents with chylothorax and respiratory symptoms rather than bone pain. 18F-FAPI PET/CT is superior to FDG for assessing activity and monitoring response. Whether mammalian target of rapamycin inhibition or antiresorptive therapy improves outcomes cannot be determined from this small series; our single-patient observations with sirolimus and alendronate are hypothesis-generating only. Multidisciplinary, individualised management with advanced imaging is essential.

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Cite

BibTeXRIS
BibTeX
@article{li2026clinical,
  title = {{Clinical characterisation and therapeutic insights from a single-centre cohort of seven patients with Gorham-Stout disease}},
  author = {Naijian Li and Xiang Le and Dawei Xu and Yunxiang Zeng and Xinlu Wang and Jinlin Wang and Zhexue Hao},
  journal = {BMJ Open Respiratory Research},
  year = {2026},
  month = oct,
  doi = {10.1136/bmjresp-2026-004545},
  url = {https://doi.org/10.1136/bmjresp-2026-004545},
  note = {CC BY-NC 4.0},
}
RIS
TY  - JOUR
TI  - Clinical characterisation and therapeutic insights from a single-centre cohort of seven patients with Gorham-Stout disease
AU  - Naijian Li
AU  - Xiang Le
AU  - Dawei Xu
AU  - Yunxiang Zeng
AU  - Xinlu Wang
AU  - Jinlin Wang
AU  - Zhexue Hao
PY  - 2026
DA  - 2026/10/26
JO  - BMJ Open Respiratory Research
DO  - 10.1136/bmjresp-2026-004545
UR  - https://doi.org/10.1136/bmjresp-2026-004545
AB  - 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.  Results: Patients (six males, one female; median age 27 years) commonly presented with dyspnoea (5/7) and universal pleural effusion (7/7, including four chylothoraces). Extensive osteolysis (ribs, spine, pelvis) occurred without significant bone pain in most cases. 18F-FAPI PET/CT showed intense uptake (maximum standardised uptake value (SUVmax) 4.0–17.6) in lesions, superior to 18F-FDG PET/CT (SUVmax<2.5 in 6/7). Lymphoscintigraphy confirmed central lymphatic leakage in all tested patients. Histopathology revealed D2-40-positive lymphatic proliferation. Individualised treatment included sirolimus (one patient, clinical and radiological improvement), alendronate (one patient, stable disease) and supportive care (five patients, symptomatic improvement over a 15-month median follow-up).  Conclusions: GSD often presents with chylothorax and respiratory symptoms rather than bone pain. 18F-FAPI PET/CT is superior to FDG for assessing activity and monitoring response. Whether mammalian target of rapamycin inhibition or antiresorptive therapy improves outcomes cannot be determined from this small series; our single-patient observations with sirolimus and alendronate are hypothesis-generating only. Multidisciplinary, individualised management with advanced imaging is essential.
SN  - 2052-4439
ER  -