Abstract:

Wilson's disease is a rare hereditary metabolic disorder that is reversible with treatment. Early diagnosis and timely treatment are critical factors in improving its prognosis. Thrombocytopenia and splenomegaly are common clinical manifestations but lack specificity. Their underlying causes are complex and diverse, often involving the hematologic system, immune system, digestive system, infectious diseases, and malignancies, which poses significant challenges in clinical diagnosis and easily leads to misdiagnosis. This article analyzes the clinical data of a case of Wilson's disease presenting with thrombocytopenia and splenomegaly as the initial manifestations, aiming to enhance clinicians' awareness of potential rare diseases when encountering non-specific clinical manifestations, thereby avoiding misdiagnosis and missed diagnosis and facilitating early diagnosis and intervention.

Key words: Wilson's disease, thrombocytopenia, splenomegaly, non-specific manifestation, diagnosis and treatment