Objective: Wilson’s disease (WD) is a chronic progressive neurodegenerative disease with a genetically determined disorder of copper metabolism due to mutations in the ATP7B gene, which leads to liver, brain, and kidney damage.

Background: To determine the laboratory changes in the liver in patients with WD.

Method: We examined 102 patients with WD (n=46 female, n=56 male), the average age was 27.3±5.6. We conducted a retrospective analysis of 31 case histories, a prospective analysis of 24 case histories, and an examination of 71 patients. The patients were divided into groups: group 1 – patients with chronic hepatitis, and group 2 – with liver cirrhosis. We analyzed such laboratory indicators of liver function as alanine aminotransferase (ALT), aspartic aminotransferase (AST), de Ritis coefficient (AST/ALT ratio), bilirubin, gamma-glutamyl transpeptidase (GGT), albumin, ceruloplasmin, and copper levels. Statistical data processing was performed by SPSS Statistics using the Mann-Whitney u-test. Results with p˂0.05 were considered statistically significant.

Results: We determined that ceruloplasmin level was significantly (p<0.001) lower than normal (0.063 ± 0.004, control 0.200-0.600 g/l) in 93% of patients, especially in males (0.043 ± 0.003 vs 0.079 ± 0.004) and group 2 (0.033 ± 0.002 vs 0.076 ± 0.003). The copper level was decreased in 88% (5.37 ± 1.03, control up to 12 µmol/l), with the same tendency of gender and group differences (lower in males (4.1 ± 0.31 vs 6.23 ± 0.52) and in group 2 (2.78 ± 0.14 vs 6.65 ± 1.16), p<0,05.

Thirty-eight per cent of patients with WD had an increased level of ALT (42.6 ± 6.13, control 10-40 U/l), especially in females (57.27 ± 6.35 vs 39.06 ± 3.83) and in group 1 (54.15 ± 5.06 vs 29.79 ± 2.84), p<0.05. The AST level was within the normal range in the whole group of patients (39.2 ± 3.75, control up to 42), but it was higher in females (53.1 ± 5.18 vs 32.61 ± 2. 38) and group 1 (37.68 ± 2.15 vs 28.86 ± 1.95), p<0.05.

Conclusion: Thus, our study showed that the most common laboratory changes of liver function in WD patients were increased level of aminotransferases, decreased de Ritis coefficient and high level of bilirubin as a markers of hepatic cytolysis and cholestasis. Although Wilson’s disease is rare, the study showed that it is common in the practice of both neurologists and general practitioners due to common liver changes.

References: 1 I.F. Scheiber, R. et al. Pathogenesis of Wilson disease. Handb Clin Neurol, 142 (2017), pp. 43-55
http://dx.doi.org/10.1016/B978-0-444-63625-6.00005-7
2. W. Stremmel, K.W. et al. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med, 115 (1991), pp. 720-726
http://dx.doi.org/10.7326/0003-4819-115-9-720 | Medline
3. P. Ferenci. Diagnosis of Wilson disease. Handb Clin Neurol, 142 (2017), pp. 171-180
http://dx.doi.org/10.1016/B978-0-444-63625-6.00014-8 | Medline
4. J.M. Walshe. Treatment of Wilson’s disease: the historical background. Q J Med, 89 (1996), pp. 553-555
5. W. Maselbas, A. Czlonkowska et al. Persistence with treatment for Wilson disease: a retrospective study. BMC Neurol, 19 (2019), pp. 278
http://dx.doi.org/10.1186/s12883-019-1502-4 | Medline

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MDS Abstracts - https://www.mdsabstracts.org/abstract/laboratory-changes-of-the-liver-function-in-the-patients-with-wilsons-disease/