Journal of Shanghai Jiao Tong University (Medical Science) >

2026 , Vol. 46 >Issue 4: 555 - 560

DOI: https://doi.org/10.3969/j.issn.1674-8115.2026.04.016

Case report

A case report of Wilson's disease presenting with thrombocytopenia and splenomegaly as the inital manifestations

  • Yan Xiaoqian ,
  • Yang Jie ,
  • Yang Yongbin ,
  • Chen Yu ,
  • Li Yan ,
  • Li Jie
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  • 1.Graduate School of Hebei North University, Zhangjiakou 075132, China
    2.Department of Hematology, Hebei General Hospital, Shijiazhuang 050051, China
    3.Department of Vascular Surgery, Hebei General Hospital, Shijiazhuang 050051, China
    4.Graduate School of Hebei Medical University, Shijiazhuang 050051, China
Yang Jie, E-mail: yjyyb313@163.com.

Received date: 2025-11-14

  Accepted date: 2025-12-31

  Online published: 2026-04-10

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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

Cite this article

Yan Xiaoqian , Yang Jie , Yang Yongbin , Chen Yu , Li Yan , Li Jie . A case report of Wilson's disease presenting with thrombocytopenia and splenomegaly as the inital manifestations[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2026 , 46(4) : 555 -560 . DOI: 10.3969/j.issn.1674-8115.2026.04.016

References

[1] Kumar J, Roy I. Advancements in diagnostic approaches for Wilson's disease[J]. Anal Methods, 2025, 17(21): 4228-4250.
[2] Song J C, Liu S Y, Zhu F, et al. Expert consensus on the diagnosis and treatment of thrombocytopenia in adult critical care patients in China[J]. Mil Med Res, 2020, 7(1): 15.
[3] 中华医学会肝病学分会遗传代谢性肝病协作组, 段钟平, 郑素军, 等. 肝豆状核变性诊疗指南(2022年版)[J]. 中华肝脏病杂志, 2022, 30(1): 9-20.
  Inherited Metabolic Liver Disease Collaboration Group, Chinese Society of Hepatology, Chinese Medical Association, Duan Z P, Zheng S J, et al. Guidelines for the diagnosis and treatment of hepatolenticular degeneration(2022 edition)[J]. Chinese Journal of Hepatology, 2022, 30(1): 9-20.
[4] Korga M, Pawlik P, Zaroda P, et al. Wilson's disease-clinical picture, factors influencing disease progression, treatment methods[J]. Qual Sport, 2024, 15: 51826.
[5] Lin S Z, Cai J L, Huang Y X, et al. Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review[J]. BMC Med Genomics, 2024, 17(1): 188.
[6] Khodashahi M, Mohajeri N, Alipour M R, et al. A rare and intriguing case of Wilson's disease initially suspected of systemic lupus erythematosus[J]. Clin Case Rep, 2025, 13: e70091.
[7] Litwin T, Antos A, Bembenek J, et al. Neurological deterioration in Wilson's disease-types, etiology, course, and management[J]. Discov Med, 2024, 36(183): 646-654.
[8] Roy D, Mukherjee A, Chakravarty A. Pitfalls in the diagnosis of Wilson disease[J]. Curr Neurol Neurosci Rep, 2025, 25(1): 40.
[9] Tao Z, Zhou J F, Jiang Z Z, et al. Hepatolenticular degeneration-induced hepatic dysfunction with extremely atypical clinical manifestations: a case report[J]. Front Med, 2025, 12: 1599283.
[10] Garbuz M, Ovchinnikova E, Ovchinnikova A, et al. Spectrum of pathogenic variants of the ATP7B gene and genotype-phenotype correlation in eastern Eurasian patient cohorts with Wilson's disease[J]. Biomedicines, 2024, 12(12): 2833.
[11] Zhang S J, Yang W M, Li X, et al. Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China[J]. Transl Neurodegener, 2022, 11(1): 13.
[12] Xue Z R, Chen H Y, Yu L, et al. A systematic review and meta-analysis of the R778L mutation in ATP7B with Wilson disease in China[J]. Pediatr Neurol, 2023, 145: 135-147.
[13] 夏俊珂, 宁昊丰, 罗晓, 等. 115例肝豆状核变性患者的基因型-表型关系和遗传学研究[J]. 中华肝脏病杂志, 2024, 32(6): 558-562.
  Xia J K, Ning H F, Luo X, et al. Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease[J]. Chinese Journal of Hepatology, 2024, 32(6): 558-562.
[14] Chen H, Wang X, Zhang J, et al. Effect of splenectomy based on inverse probability weighting of the propensity score on Wilson's disease with hypersplenism: a retrospective cohort study[J]. Exp Ther Med, 2023, 25(5): 220.
[15] Zhang W Z, Yu Q S, Peng H, et al. Clinical observation and risk assessment after splenectomy in hepatolenticular degeneration patients associated with hypersplenism[J]. Front Surg, 2022, 9: 972561.
[16] Beyzaei Z, Ghatei K, Shamsaeefar A, et al. Liver transplantation in Wilson disease: a single-center experience[J]. Orphanet J Rare Dis, 2025, 20(1): 292.
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