Subscribe to RSS
DOI: 10.1055/a-2588-9131
Morbus Wilson vernetzt – interdisziplinär denken, besser behandeln
Wilson’s disease – interdisciplinary networking, better treatmentAuthors
Der Morbus Wilson ist eine seltene Erkrankung – frühzeitig erkannt und behandelt ist die Prognose günstig. Symptomfreiheit und normale Lebenserwartung sind realistische Therapieziele. Setzt die Behandlung zu spät ein, verbleiben oft Funktionsstörungen, auch in alltagsrelevantem Ausmaß. Unbehandelt verläuft die Erkrankung tödlich. Als „Chamäleonerkrankung“ ist der Morbus Wilson eine wichtige Differenzialdiagnose in vielen Fachbereichen.
Abstract
Morbus Wilson is a rare disease – if detected and treated early, the prognosis is favorable. Symptom freedom and a normal life expectancy are realistic treatment goals. If treatment starts too late, there are often functional impairments, also relevant in everyday life. If left untreated, the disease is fatal. Known as a "chameleon disease," Morbus Wilson is an important differential diagnosis in many medical specialties.
Publication History
Article published online:
06 November 2025
© 2025. Thieme. All rights reserved.
Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany
-
Literatur
- 1 Hermann W. et al. Morbus Wilson. S1-Leitlinie 2025. In: Deutsche Gesellschaft für Neurologie Hrsg. Leitlinien für Diagnostik und Therapie in der Neurologie. Online www.dgn.org/leitlinien (abgerufen am 27.07.2025)
- 2 Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34: 295-507
- 3 Ferenci P, Stremmel W, Członkowska A. et al. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease. Hepatology 2019; 69: 1464
- 4 Bandmann O, Weiss KH, Kluge R. et al. Wilson’s disease and other neurological copper disorders. Lancet Neurol 2015; 14: 103-113
- 5 Kim JW, Kim JH, Seo JK. et al. Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases. World J Hepatol 2013; 5: 156-159
- 6 Ala A, Borjigin J, Rochwarger A. et al. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 2005; 41: 668-670
- 7 Reddy KR. Late onset Wilson disease frequently overlooked. Gastroenterology 2006; 131: 34
- 8 Zigrai M, Vyskocil M, Tothova A. et al. Late onset Wilson’s disease. Front Med. 2020. 7. 26
- 9 Huster D. Morbus Wilson. Internist. 2018. 59. 159-174
- 10 Reuner U, Huster D. Therapie des Morbus Wilson. In: Höglinger GU Hrsg. Parkinson-Syndrome kompakt Diagnostik und Therapie in Klinik und Praxis. Stuttgart New York: Georg Thieme Verlag; 2019
- 11 Mueller A, Reuner U, Landis B. et al. Extrapyramidal symptoms in Wilson’s disease are associated with olfactory dysfunction. Mov Disord 2006; 21: 1311-1316
- 12 Leinweber B, Möller JC, Scherag A. et al. Evaluation of the Unified Wilson’s disease rating scale (UWDRS) in German patients with treated Wilson’s disease. Mov Disord 2008; 23: 54-62
- 13 Hermann W, Kastrup O. Hrsg. Referenz Neurologie Dort Tabelle: 25.4 Initialsymptomatik des Mb. Wilson Seite 247
- 14 Akil M, Schwartz JA, Dutchak D. et al. The psychiatric presentations of Wilson’s disease. J Neuropsychiatry Clin Neurosci 1991; 3: 377-382
- 15 Graf S. Psychiatrische Komorbiditäten bei Morbus Wilson: Eine Untersuchung von Prävalenz, klinischer Relevanz und alltagsbezogener Beeinträchtigung mittels standardisierter Screening-Instrumente. Diplomarbeit Medizinische Fakultät der Universität Wien 2022; urn:nbn:at:at-ubmuw:1–44153
- 16 Litwin T, Dusek P, Szafrański T. et al. Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment. Ther Adv Psychopharmacol 2018; 8: 349-360
- 17 Litwin T, Dusek P, Antos A. et al. Tackling the neurological manifestations in Wilson’s disease – currently available treatment options. Expert Rev Neurother 2023; 23: 1249-1259
- 18 Svetel M, Potrebić A, Pekmezović T. et al. Neuropsychiatric aspects of treated Wilson’s disease. Parkinsonism Relat Disord 2009; 15: 772-775
- 19 Zimbrean PC, Schilsky ML. Psychiatric aspects of Wilson disease: a review. Gen Hosp Psychiatry 2014; 36: 53-62
- 20 Stock AK, Reuner U, Gohil K. et al. Effects of copper toxicity on response inhibition processes: a study in Wilson’s disease. Arch Toxicol 2016; 90: 1623-1630
- 21 Hermann W, Huster D. Diagnostik des Morbus Wilson. Nervenarzt 2018; 89: 115-129
- 22 Hefter H, Arendt G, Stremmel W. et al. Motor impairment in Wilson’s disease, slowness of voluntary limb movements. Acta Neurol Scand 1993; 87: 133-147
- 23 Flemming CR, Dickson ER, Hollenhorst RW. et al. Pigmentes corneal rings in a patient with primary biliary cirrhosis. Gastroenterology 1975; 69: 220-225
- 24 Tauber J, Steinert RF. Pseudo-Kayser-Fleischer ring of the cornea associated with non-Wilsonian liver disease. Cornea 1993; 12: 74-77
- 25 EASL-ERN. Clinical practice guidelines on Wilson’s disease. J Hepatol 2025; 82: 690-728
- 26 Kuan P. Cardiac Wilson’s disease. Chest 1987; 91: 579-583
- 27 Grandis DJ, Nah G, Whitman IR. et al. Wilson’s disease and cardiac myopathy. Am J Cardiol 2017; 120: 2056-2060
- 28 Quick S, Weidauer M, Heidrich FM. et al. Cardiac manifestation of Wilson’s disease. J Am Coll Cardiol 2018; 72: 2808-2809
- 29 Li K, Lindauer C, Haase R. et al. Autonomic dysfunction in Wilson’s disease: a comprehensive evaluation during a 3-year follow up. Front Physiol 2017; 8: 778
- 30 Quick S, Reuner U, Weidauer M. et al. Cardiac and autonomic function in patients with Wilson’s disease. Orphanet J Rare Dis 2019; 14: 22
- 31 Zhang K, Reuner U, Hempel C. et al. Evaluation of myocardial strain using cardiac magnetic resonance in patients with Wilson’s disease. J Clin Med 2021; 10: 335
- 32 Zhang K, Reuner U, Weidauer M. et al. Left ventricular clefts – incidental finding or pathologic sign of Wilson’s disease?. Orphanet J Rare Dis 2019; 14: 244
- 33 Wang C, Gao H, Sun J. et al. Cardiac involvement in Wilson’s disease: a retrospective cohort study. Eur J Gastroenterol Hepatol 2022; 34: 1147-1150
- 34 Moini M, To U, Schilsky ML. Recent advances in Wilson disease. Transl Gastroenterol Hepatol 2021; 6: 21
- 35 Mariño Z, Molera-Busoms C, Badenas C. et al. Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease. J Inherit Metab Dis 2023; 46: 982-991
- 36 El Balkh S, Trocello JM, Poupon J. et al Relative exchangeable copper: a highly sensitive and highly specific biomarker for Wilson’s disease diagnosis. Clin Chim Acta 2011; 412: 2254-2260
- 37 Trocello JM, El Balkh S, Woimant F. et al Relative exchangeable copper: a promising tool for family screening in Wilson’s disease. Mov Disord 2014; 29: 558-562
- 38 Hermann W, Kühn HJ. Stellenwert des intravenösen Radiokupfertests in der Diagnostik des Morbus Wilson. Monatsschr Kinderheilkd. 2020
- 39 Collins CJ, Yi F, Dayuha R. et al. Direct measurement of ATP7B peptides is highly effective in the diagnosis of Wilson disease. Gastroenterology 2021; 160: 2367-2382.e1
- 40 Mahlknecht P, Schocke M, Seppi K. Differentialdiagnose der Parkinson-Syndrome mittels MRT. Nervenarzt 2010; 81: 1168-1179
- 41 Schlaug G, Hefter H, Engelbrecht V. et al. Neurological impairment and recovery in Wilson’s disease: evidence from PET and MRI. J Neurol Sci 1996; 136: 129-139
- 42 Hermann W. Morphologische und pathophysiologische Störungen im ZNS bei Morbus Wilson. Nervenheilkunde 2016; 6: 419-424
- 43 Munk D, Kirk FT, Vendelbo M. et al. Positron emission tomography using 64-copper as a tracer for the study of copper-related disorders. J Vis Exp. 2023 194.
- 44 Sandahl TD, Gormsen LC, Kjærgaard K. et al. The pathophysiology of Wilson’s disease visualized: a human 64Cu PET study. Hepatology 2022; 75: 1461-1470
- 45 Hermann W, Villmann T, Wagner A. Elektrophysiologisches Schädigungsprofil von Patienten mit einem Morbus Wilson. Nervenarzt 2003; 10: 881-887
- 46 Günther P, Baum P, Villmann T. et al. EEG-Befunde in der stabilen Therapiephase des Morbus Wilson. Klin Neurophysiol 2010; 3: 193-197
- 47 Karlas T, Hempel M, Troltzsch M. et al. Non-invasive evaluation of hepatic manifestation in Wilson disease with transient elastography ARFI, and different fibrosis scores. Scand J Gastroenterol 2012; 47: 1353-1361
- 48 Hwang J, Yoon HM, Jung AY. et al. Diagnostic performance of ultrasound elastography and serologic fibrosis indices for evaluation of hepatic involvement in Wilson disease. J Ultrasound Med 2020; 39: 2231-2242
- 49 Schilsky ML, Roberts EA, Bronstein JM. et al A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 practice guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology 2023; Apr. 1: 77 (4): 1428-1458
- 50 Ferenci P, Caca K, Loudianos G. et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003. 23. 139-142
- 51 Pfeiffenberger J, Beinhardt S, Gotthardt DN. et al. Pregnancy in Wilson’s disease: management and outcome. Hepatology 2018; 67: 1261-1269
- 52 Reuner U, Dinger J. Pregnancy and Wilson disease: management and outcome of mother and newborns – experiences of a perinatal centre. Ann Transl Med 2019; 7: S56-S60
- 53 Ferenci P, Czlonkowska A, Stremmel W. et al. EASL clinical practice guidelines: Wilson’s disease. J Hepatol 2012; 56: 671-685
- 54 Socha P, Janczyk W, Dhawan A. et al. Wilson’s disease in children: a position paper by the hepatology committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2018; 66: 334-344
- 55 Litwin T, Dzieżyc K, Karliński K. et al. Early neurological worsening in patients with Wilson’s disease. J Neurol Sci 2015; 355: 162-167
- 56 Mohr I, Pfeiffenberger J, Eker E. et al. Neurological worsening in Wilson disease – clinical classification and outcome. J Hepatol 2023; 79: 321-328
- 57 Weiss KH, Askari FK, Czlonkowska A. et al. Bis-choline tetrathiomolybdate in patients with Wilson’s disease: an open-label multicentre phase 2 study. Lancet Gastroenterol Hepatol 2017; 12: 869-876
- 58 Kirk FT, Munk D, Swenson ES. et al. Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease. J Hepatol 2024; 80: 586-595
- 59 Gitlin N. Wilson’s disease: the scourge of copper. J Hepatol 1998; 28: 734-739
- 60 Herrmann T, Smolarek C, Gehrke S. et al. Hämochromatose und Morbus Wilson. Internist 1999; 40: 513-521
- 61 Dhawan A, Taylor RM, Cheeseman P. et al. Wilson’s disease in children: 37-year experience and revised King’s score for liver transplantation. Liver Transpl 2005; 11: 441-448
- 62 Beinhardt S, Rasoul-Rockenschaub S, Steindl-Munda P. et al. Langzeit-Outcome der orthotopen Lebertransplantation bei Morbus Wilson. Gastroenterol 2009; 47-P16
- 63 Hermann W, Eggers B, Wagner A. The indication for liver transplant to improve neurological symptoms in a patient with Wilson’s disease. J Neurol 2002; 249: 1733-1734
- 64 Aksoy F, Arslan İE, Ozgur T. et al. Does liver transplant improve neurological symptoms in Wilson disease? Report of 24 cases. Exp Clin Transplant 2022; 20: 1009-1015
- 65 Marmol S, Maeder-York PW, Hislop J. et al. Treating the neurologic manifestations of Wilson’s disease with liver transplantation. Neurohospitalist 2024; 14: 99-103
- 66 da Silva-Junior FP, Machado AAC, Lucato LT. et al. Copper deficiency myeloneuropathy in a patient with Wilson disease. Neurology 2011; 76: 1673-1674
- 67 Spinazzi M, Sghirlanzoni A, Salviati L. et al. Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy. Neurology 2011; 76: 1673-1674
- 68 Wolter F. Die Aktivität der Cytochrom-c-Oxidase bei Morbus Wilson-Patienten unter kupfersenkender Therapie. Dissertation Medizinische Fakultät der TU Dresden. 2024
- 69 Shribman S, Heller C, Burrows M. et al Plasma neurofilament light as a biomarker of neurological involvement in Wilson’s disease. Mov Disord 2020; 36: 503-508
- 70 Ziemssen T, Akgun K, Członkowska A. et al. Serum neurofilament light chain as a biomarker of brain injury in Wilson’s disease: clinical and neuroradiological correlations. Mov Disord 2022; 37: 1074-1079
- 71 Ziemssen T, Smolinski L, Członkowska A. et al. Serum neurofilament light chain and initial severity of neurological disease predict the early neurological deterioration in Wilson’s disease. Acta Neurol Belg 2023; 123: 917-925
- 72 Leng Y, Li P, Zhou L. et al. Long-term correction of copper metabolism in Wilson’s disease mice with AAV8 vector delivering truncated ATP7B. Hum Gene Ther 2019; 30: 1494-1504
- 73 Cai H, Cheng X, Wang XP. ATP7B gene therapy of autologous reprogrammed hepatocytes alleviates copper accumulation in a mouse model of Wilson’s disease. Hepatology 2022; 76: 1046-1057
- 74 Tang S, Bai L, Duan Z. et al. Stem cells treatment for Wilson disease. Curr Stem Cell Res Ther 2022; 17: 712-719
- 75 Einer C, Munk DE, Park E. et al ARBM101 (Methanobactin SB2) drains excess liver copper via biliary excretion in Wilson disease rats. Gastroenterology 2023; 165: 187-200
