ReviewOrphanet journal of rare diseases2026
Gorham-Stout disease with thoracic involvement: pathogenic mechanisms, respiratory complications, and multimodal therapies.
Review in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
backgroundGorham-Stout disease (GSD), also known as vanishing bone disease, is a rare osteolytic disorder characterized by progressive bone resorption and proliferation of lymphatic and vascular channels. Thoracic involvement often leads to life-threatening respiratory complications, yet clinical recognition remains delayed due to its rarity and heterogeneity.
objectiveThis review aims to synthesize recent advances in the understanding of GSD pathogenesis, highlight the disproportionate burden of respiratory complications-particularly chylothorax-and propose an integrated diagnostic and therapeutic framework tailored to anatomical risk profiles.
methodsA comprehensive literature review of 125 cases (2010-2025) was conducted, focusing on molecular mechanisms, clinical phenotypes, respiratory manifestations, and therapeutic outcomes. Key pathogenic pathways involving RANKL/RANK/OPG, M-CSF, VEGF, IL-6, and TNF-α were analyzed, alongside their immune-vascular interactions.
resultsRespiratory involvement was observed in over 40% of cases, with chylothorax accounting for the highest mortality risk. Aberrant lymphangiogenesis, immune dysregulation, and osteoclast hyperactivation formed the mechanistic triad driving disease progression. Imaging (CT/MRI/PET) and exclusion-based diagnostics remain essential. Sirolimus-based regimens, bisphosphonates, radiotherapy, and surgical interventions-particularly thoracic duct ligation and vertebral stabilization-comprise the current multimodal strategy.
conclusionsGSD represents a clinically and mechanistically complex entity requiring early identification of respiratory threats, individualized treatment plans, and multidisciplinary coordination. Future research should prioritize biomarker discovery and prospective therapeutic trials to optimize outcomes in this rare but severe condition.
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