Genetics and pathophysiology of diffuse idiopathic skeletal hyperostosis

Diffuse Idiopathic Skeletal Hyperostosis (DISH) is a systemic condition primarily characterized by flowing ossification along the anterolateral aspects of the spine, often leading to back pain, dysphagia, and an increased risk of spinal fractures. Despite its significant clinical burden and high prevalence among the elderly, DISH remains underdiagnosed and poorly understood, with no disease-modifying therapies currently available. This article provides a comprehensive review of the genetic variations and environmental factors involved in the pathogenesis of DISH, encompassing recent research progress in inflammation, metabolism, pathogenic genes, and animal models. It also critically highlights the current challenges and future directions in DISH research.