Clinical case: combination of ulcerative colitis and Wilson – Konovalov disease – challenges of diagnostics and treatment

Wilson – Konovalov disease (WKD) or hepatolenticular degeneration is a rare genetic disorder associated with a defect in copper metabolism, which in turn leads to liver dysfunction and degenerative changes in the basal ganglia of the brain. In the presented clinical case, the patient had a combination of symptoms of ulcerative colitis and WKD in the form of liver failure and neurological symptoms. There is no evidence in the world literature of a common genetic background between ulcerative colitis and Wilson's disease, but high copper levels are present in both diseases. The diagnosis of WKD was diagnosed a year after the onset of ulcerative colitis symptoms. UC did not respond to treatment with hormones and cytostatics. Regression of clinical symptoms was observed after the addition of biological therapy.

1. Ala A., Walker AP., Ashkan K., Dooley JS., Schilsky ML. Wilson's disease. Lancet. 2007; 369 (9559): 397–408. DOI: 10.1016/S 0140-6736 (07) 60196-2

2. Weiss KH., Stremmel W. Clinical considerations for an effective medical therapy in Wilson's disease. Ann N Y Acad Sci. 2014; 1315: 81–85. DOI: 10.1111/nyas.12437

3. Lech T., Hydzik P., Kosowski B. Significance of copper determination in late onset of Wilson's disease. Clin Toxicol (Phila). 2007; 45 (6): 688–694.

4. Torisu T., Esaki M., Matsumoto T., Nakamura S., Azuma K., Okada M., T suji H., Yao T., Iida M. A rare case of ulcerative colitis complicating Wilson's disease: possible association between the two diseases. J Clin Gastroenterol. 2002; 35 (1): 43–5. DOI: 10.1097/00004836-200207000-00010

5. van Wassenaer-van Hall H. N., van den Heuvel A. G., Algra A. et al. Wilson disease: findings at MR imaging and CT of the brain with clinical correlation. Radiology. 1996; 198 (2): 531–536.

6. Schilsky ML. Wilson disease: Clinical manifestations, diagnosis, and treatment. Clin Liver Dis (Hoboken). 2014; 3 (5): 104–107. DOI: 10.1002/cld.349

7. Roh J. K. et al. Initial and follow up brain MRI findings and correlation with the clinical course in Wilson's disease. Neurology. 1994; 44 (6): 1064–1068.

8. Sinha S. et al. Sequential MRI changes in Wilson's disease with de-coppering therapy: a study of 50 patients. The British journal of radiology. 2007; 80 (957): 744–749.

9. Dusek P., Litwin T., Czonkowska A. Neurologic impairment in Wilson disease. Ann Transl Med. 2019; 7 (Suppl 2): S 64. DOI:10.21037/atm.2019.02.43

10. Gilroy Richard K. Wilson Disease. Updated: 2019 (https://emedicine.medscape.com/article/183456-overview).

11. Tinaz S., Arora J., Nalamada K., Vives-Rodriguez A., Sezgin M., Robakis D., Patel A. et al. Structural and functional brain changes in hepatic and neurological Wilson disease. Brain Imaging Behav. 2021; 15 (5): 2269–2282. DOI: 10.1007/s11682-020-00420-5

12. Thompson AJ., Banwell BL., Barkhof F. et al. Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria. Lancet Neurol. 2018; 17(2): 162–173.

13. Belousova E. D. Hepatolenticular degeneration (Wilson – Konovalov disease). Russian Bulletin of Perinatology and Pediatrics. 2009; 3: 34–37. (In Russ.).

14. Reizis A. R. Wilson – Konovalov disease in children. Doctor. Py. 2020; 19 (10): 52–56. (In Russ.).

15. Ryzhkova O. V., Kozlova N. M., Filatova I. A., Sinitsyna T. A. Late diagnosis of Wilson – Konovalov disease (clinical case). Diary of the Kazan Medical School. 2020; 4 (30): 30–33. (In Russ.).

16. Copper metabolism disorders (Wilson disease): clinical guidelines. 2021. (https: cr.minzdrav.gov.ru/recomend/376_2).

17. Saroli Palumbo C., Schilsky M. L. Clinical practice guidelines in Wilson disease. Ann Transl Med. 2019; 7 (2): 65. DOI: 10.21037/atm.2018.12.53

18. Samodova O. V., Smirnova G. P., Kriger E. A. Wilson-Konovalov disease in pediatric practice: clinical observations with different course and outcome options. Russian Journal of Gastroenterology, Hepatology, Coloproctology. 2023; 33 (1): 77–83. (In Russ.). https://doi.org/10.22416/1382-4376-2023-33-1-77-83

19. Nery FG., Marques I. Magalhaes M., Miranda HP. Wilson's Disease and Ulcerative Colitis in the Same Patient: Just A Coincidence? A Case Report and Literature Review. Gastroenterology Res. 2010; 3 (6): 287–289. DOI: 10.4021/gr271w

20. Socha P., Janczyk W., Dhawan A., Baumann U., D' Antiga L., Tanner S. 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 (2): 334–44. DOI: 10.1097/MPG.0000000000001787

21. Kunizak1 J, Yoto Y, Nagaoka Y. et al. Ulcerative Colitis Preceding Asymptomatic Wilson's Disease: A Case Report and Literature Review. Gastro Hep Adv.2024 Sep 11; 4 (1): 100548.

22. Ulcerative colitis as a complication of trientine chelation therapy: Boga S, Jain D, Schilsky ML. Trientine induced colitis during therapy for Wilson disease: a case report and review of the literature. BMC Pharmacol Toxicol. 2015 Nov 20; 16: 30.