Long‐term outcome of Wilson's disease complicated by liver disease

Abstract

Background and Aim Wilson's disease (WD) is a rare inherited disease that causes systemic copper accumulation. This study examined the long‐term course of WD patients with liver disease. Methods The 12 patients (9 female patients) enrolled in the study had a median age of 28 years (range: 19–57 years) at their first visit to our hospital. Clinical course and fibrosis markers were assessed in all patients. Results The median age at diagnosis was 24 years (range: 5–42 years). One patient had acute liver failure (ALF) and 11 patients had chronic liver disease (CLD, 5 with cirrhosis). The patients were followed‐up for >20 years. The patient with ALF underwent liver transplantation; the postoperative course during the subsequent 20 years was good. Of the six patients with CLD, liver cirrhosis developed in four patients with interrupted chelating therapy. Two of the patients with cirrhosis died; one of these two patients died at 21 years after liver transplantation. However, the remaining patients with continued treatment exhibited a favorable clinical course for 30 years and none developed hepatocellular carcinoma (HCC). The duration of chelation therapy was significantly negatively correlated (P < 0.05) with the fibrosis‐4 index or aspartate aminotransferase to platelet ratio index (APRI) score at the last visit; lower values were indicative of greater treatment success. Patients with an APRI score ≥1.5 had a significantly worse prognosis (P < 0.05). Conclusion Long‐term survival of patients with WD was achieved without worsened liver function or carcinogenesis with appropriate treatment. Treatment disruption should be avoided.

Asian Pacific Association for the Study of the Liver clinical practice guidelines on liver transplantation

“…The prevalence of acute hepatitis D virus infection is highest in Mongolia, where 8% of the general population and 83.3% of hepatitis B surface antigen (HBsAg)-positive patients are infected [22,23]. Other causes for ALF are pregnancy-related, autoimmune hepatitis (AIH), and Wilson's disease [24][25][26][27].…”

Elastography of the Liver in Wilson’s Disease

“…Moreover, what is unique about Wilson's disease is that it affects also children, and in this age group, the awareness and reporting of the symptoms are lower than in adults [1]. Liver involvement in Wilson's disease presents most often with asymptomatic elevation of liver enzymes; however, acute liver failure may be the first manifestation of the disease [2,3]. In the early stages of Wilson's disease steatosis of the liver is usually reported.…”