肝豆状核变性是临床上少见的经治疗可逆转的遗传代谢性疾病，早期诊断及尽早治疗是改善其预后的关键因素。血小板减少及脾大作为临床常见表现，特异性较低。其潜在的病因复杂多样，常涉及血液系统疾病、免疫系统疾病、消化系统疾病、感染性疾病及恶性肿瘤等多种疾病，这使其在临床诊断上常面临巨大挑战，极易导致误诊。该文深入分析了1例以血小板减少、脾大为首发症状的肝豆状核变性患者的病例资料，旨在提升临床医师在面对非特异性临床表现时，对潜在罕见疾病的诊断意识，从而避免误诊、漏诊，争取早期诊断和干预。

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.