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Open Access 01-12-2024 | Wilson's Disease | Case Report

Systemic lupus erythematosus combined with Wilson’s disease: a case report and literature review

Authors: Zhenle Yang, Qian Li, Suwen Liu, Zihan Zong, Lichun Yu, Shuzhen Sun

Published in: BMC Pediatrics | Issue 1/2024

Abstract

Background

Systemic lupus erythematosus (SLE) and Wilson’s disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is rarely encountered in clinical practice, making it challenging to diagnose.

Case report

We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies. She was diagnosed with SLE, and her blood biochemistry showed elevated liver enzymes at the time of diagnosis. Despite effective control of her symptoms, her liver enzymes remained elevated during regular follow-up. Laboratory tests revealed decreased serum copper and ceruloplasmin levels, along with elevated urinary copper. Liver biopsy revealed chronic active hepatitis, moderate inflammation, moderate-severe fibrosis, and a trend towards local cirrhosis. Genetic sequencing revealed compound heterozygous mutations in the ATP7B gene, confirming the diagnosis of SLE with WD. The girl received treatment with a high-zinc/low-copper diet, but her liver function did not improve. Upon recommendation following multidisciplinary consultation, she underwent liver transplantation. Unfortunately, she passed away on the fourth day after the surgery.

Conclusions

SLE and WD are diseases that involve multiple systems and organs in the body, and SLE complicated with WD is rarely encountered in the clinic; therefore, it is easy to misdiagnose. Because penicillamine can induce lupus, it is not recommended. Liver transplantation is indicated for patients with liver disease who do not respond to medical treatment with WD. However, further research is needed to determine the optimal timing of liver transplantation for patients with SLE complicated with WD.

González-Regueiro JA, Cruz-Contreras M, Merayo-Chalico J, et al. Hepatic manifestations in systemic lupus erythematosus. Lupus. 2020;29(8):813–24. https://doi.org/10.1177/0961203320923398.CrossRefPubMed

Zheng RH, Wang JH, Wang SB, et al. Clinical and immunopathological features of patients with lupus hepatitis. Chin Med J (Engl). 2013;126(2):260–6.CrossRefPubMed

Matsumoto T, Kobayashi S, Shimizu H, et al. The liver in collagen diseases: pathologic study of 160 cases with particular reference to hepatic arteritis, primary biliary cirrhosis, autoimmune hepatitis and nodular regenerative hyperplasia of the liver. Liver. 2000;20(5):366–73. https://doi.org/10.1034/j.1600-0676.2000.020005366.x.CrossRefPubMed

Matsumoto T, Yoshimine T, Shimouchi K, et al. The liver in systemic lupus erythematosus: pathologic analysis of 52 cases and review of Japanese Autopsy Registry Data. Hum Pathol. 1992;23(10):1151–8. https://doi.org/10.1016/0046-8177(92)90033-y.CrossRefPubMed

Takahashi A, Abe K, Saito R, et al. Liver dysfunction in patients with systemic lupus erythematosus. Intern Med. 2013;52(13):1461–5. https://doi.org/10.2169/internalmedicine.52.9458.CrossRefPubMed

Lozovoy MA, Simão AN, Panis C, et al. Oxidative stress is associated with liver damage, inflammatory status, and corticosteroid therapy in patients with systemic lupus erythematosus. Lupus. 2011;20(12):1250–9. https://doi.org/10.1177/0961203311411350.CrossRefPubMed

Bessone F. Non-steroidal anti-inflammatory drugs: what is the actual risk of liver damage? World J Gastroenterol. 2010;16(45):5651–61. https://doi.org/10.3748/wjg.v16.i45.5651.CrossRefPubMedPubMedCentral

Siramolpiwat S, Sakonlaya D. Clinical and histologic features of azathioprine-induced hepatotoxicity. Scand J Gastroenterol. 2017;52(8):876–80. https://doi.org/10.1080/00365521.2017.1311936.CrossRefPubMed

Sahebjam F, Vierling JM. Autoimmune hepatitis. Front Med. 2015;9(2):187–219. https://doi.org/10.1007/s11684-015-0386-y.CrossRefPubMed

10.

Adiga A, Nugent K. Lupus Hepatitis and Autoimmune Hepatitis (Lupoid Hepatitis). Am J Med Sci. 2017;353(4):329–35. https://doi.org/10.1016/j.amjms.2016.10.014.CrossRefPubMed

11.

European Association for the Study of the Liver. EASL Clinical Practice guidelines: autoimmune hepatitis [published correction appears in J Hepatol. 2015;63(6):1543-4]. J Hepatol. 2015;63(4):971–1004. https://doi.org/10.1016/j.jhep.2015.06.030.CrossRef

12.

Fernando M, van Mourik I, Wassmer E, et al. Wilson disease in children and adolescents. Arch Dis Child. 2020;105(5):499–505. https://doi.org/10.1136/archdischild-2018-315705.CrossRefPubMed

13.

Shah D. Wilson’s disease: hepatic manifestations. Dis Mon. 2014;60(9):465–74. https://doi.org/10.1016/j.disamonth.2014.07.004.CrossRefPubMed

14.

European Association for Study of Liver. EASL Clinical Practice guidelines: Wilson’s disease. J Hepatol. 2012;56(3):671–85. https://doi.org/10.1016/j.jhep.2011.11.007.CrossRef

15.

Pfeiffer RF. Wilson’s Disease. Semin Neurol. 2007;27(2):123–32. https://doi.org/10.1055/s-2007-971173.CrossRefPubMed

16.

Hedera P. Wilson’s disease: a master of disguise. Parkinsonism Relat Disord. 2019;59:140–5. https://doi.org/10.1016/j.parkreldis.2019.02.016.CrossRefPubMed

17.

Pradhan S, Krishnamurthy S, Jagadisan B, et al. Wilson disease and lupus nephritis: is it coincidence or a true association? Paediatr Int Child Health. 2019;39(2):146–9. https://doi.org/10.1080/20469047.2018.1443411.CrossRefPubMed

18.

Zhong S, Xu Y, Deng C, et al. Thrombocytopenia, dyspnea and cough, systemic lupus erythematosus or hepatolenticular degeneration? Chin J Appl Clin Pediatr. 2017;32(20):1580–3. https://doi.org/10.3760/cma.j.issn.2095-428X.2017.20.015.CrossRef

19.

Antczak-Kowalska M, Członkowska A, Eyileten C, et al. Autoantibodies in Wilson disease: impact on clinical course. JIMD Rep. 2022;63(5):508–17. https://doi.org/10.1002/jmd2.12317. Published 2022 Jul 22.CrossRefPubMedPubMedCentral

20.

Xu L, Liu B, Liu Z, et al. Co-occurrence of Wilson’s disease and systemic lupus erythematosus: a case report and literature review. BMC Gastroenterol. 2021;21(1):229. Published 2021 May 21.CrossRefPubMedPubMedCentral

21.

Kim TY, Lee SH, Kim TJ, et al. A case of fulminant hepatic failure in Wilson’s disease combined with systemic lupus erythematosus. Taehan Kan Hakhoe Chi. 2002;8(1):100–4.PubMed

22.

Santhakumar R, Gayathri K, Ramalingam PK, et al. Wilson’s disease with systemic Lupus Erythematosus. J Assoc Physicians India. 2016;64(4):81–2.PubMed

23.

Zhang Y, Wang D, Wei W et al. Wilson’s disease combined with systemic lupus erythematosus: a case report and literature review. BMC Neurol. 2018;18(1):85. Published 2018 Jun 15. https://doi.org/10.1186/s12883-018-1085-5.

24.

Mageed SA, Rawla P, Mahmoud MA, et al. Systemic lupus erythematosus, hypoparathyroidism, and hemolytic anemia in a patient with Wilson’s disease. Reumatologia. 2019;57(4):239–42. https://doi.org/10.5114/reum.2019.87622.CrossRefPubMedPubMedCentral

25.

Shi W, Huang X, Zhang S, et al. Co-occurring Wilson’s disease and non-penicillamine-induced systematic lupus erythematosus: a case report and literature review. Clin Rheumatol. 2021;40(6):2485–90. https://doi.org/10.1007/s10067-020-05463-z.CrossRefPubMed

26.

Shi W, Huang X, et al. Lupus erythematosus in Wilson’s disease: four cases and literature review[J]. Chin J Allergy Clin Immunol. 2021;15(2):173–7. https://doi.org/10.3969/j.issn.1673-8705.2021.02.008.(24).CrossRef

27.

Huifang, Yang. Zhankui Wang.A case of systemic lupus erythematosus complicated with hepatolenticular degeneration [J]. Chin J New Clin Med. 2022;15(7):649–50. https://doi.org/10.3969/j.issn.1674-3806.2022.07.18.CrossRef

28.

Barthel HR, Wallace DJ, Klinenberg JR. Liver transplantation in patients with systemic lupus erythematosus. Lupus. 1995;4(1):15–7. https://doi.org/10.1177/096120339500400104.CrossRefPubMed

29.

Schilsky ML. Liver transplantation for Wilson’s disease. Ann N Y Acad Sci. 2014;1315:45–9. https://doi.org/10.1111/nyas.12454.CrossRefPubMed

30.

Chanpong A, Dhawan A. Wilson disease in children and young adults - state of the art. Saudi J Gastroenterol. 2022;28(1):21–31. https://doi.org/10.4103/sjg.sjg_501_21.CrossRefPubMedPubMedCentral

31.

Arnon R, Annunziato R, Schilsky M, Miloh T, Willis A, Sturdevant M, Sakworawich A, et al. Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults. Clin Transpl. 2011;25:E52–60.CrossRef

32.

GaroufaliaZ PA. Liver transplantation for Wilson’s disease in non-adult patients: a systematic review[J]. Transpl Proc. 2019;51(2):443–5. https://doi.org/10.1016/j.transproceed.2019.01.017.CrossRef

33.

Lian EC, Tzakis AG, Andrews D. Response of factor V inhibitor to Rituximab in a patient who received liver transplantation for primary biliary cirrhosis. Am J Hematol. 2004;77(4):363–5. https://doi.org/10.1002/ajh.20181.CrossRefPubMed

34.

Zazzetti F, Buschiazzo A, Villamil FG, et al. Liver transplantation in systemic lupus erythematosus: case report and review of the literature. Lupus. 2011;20(1):90–4. https://doi.org/10.1177/0961203310377219.CrossRefPubMed

Title: Systemic lupus erythematosus combined with Wilson’s disease: a case report and literature review
Authors: Zhenle Yang
Qian Li
Suwen Liu
Zihan Zong
Lichun Yu
Shuzhen Sun
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Wilson's Disease
Wilson's Disease
Systemic Lupus Erythematosus
Liver Transplantation
Liver Transplantation
Liver Transplantation
Liver Transplantation
Liver Transplantation
Penicillamine
Hepatitis
Published in: BMC Pediatrics / Issue 1/2024
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-024-04713-2

At a glance: The STEP trials

Springer Medicine

Systemic lupus erythematosus combined with Wilson’s disease: a case report and literature review

Abstract

Background

Case report

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case report

Conclusions

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