UC San Diego

BACKGROUND: Wilsons disease (WD) is a rare genetic disorder characterized by copper accumulation in the body, leading to a spectrum of health issues, such as liver disease, neurological disturbances, and psychiatric disorders. In recent years, there has been increasing recognition that WD can also result in osteoarticular defects. Research has shed light on the potential of WD to cause these findings, which in some instances, can progress to osteoarthritis and persistent pain. However, the exact pathophysiological process through which WD leads to osteochondral defects remains unclear. CASE DESCRIPTION: We present a case of a 30-year-old male diagnosed with WD exhibiting musculoskeletal symptoms. The patients medical history revealed chronic intermittent knee pain. Radiographic and magnetic resonance imaging (MRI) studies revealed a substantial osteochondral lesion with high-grade chondral fissuring. This report reviews the proposed pathophysiology of orthopedic pathology in WD, offers an updated literature review, and provides clinical recommendations for management. Treatment options including nonsurgical options and surgery are discussed. CONCLUSIONS: This case underscores the significance of identifying the orthopedic manifestations of WD, even in the absence of classic signs and symptoms. Any WD patient suspected of having osteoarticular defects should be thoroughly evaluated, with a low threshold for initiating imaging studies. Moreover, treatment plans should be tailored to the patients specific presentation, emphasizing the importance of individualized patient care. This case highlights key findings in WD and provides important insights, particularly on the clinical relevance of osteoarticular defects in WD, the potential application of nonsurgical and surgical treatments, and the importance of individualized patient care in the management of WD.