Wilson disease (hepatobiliary manifestations)
Hepatobiliary manifestations of Wilson disease vary largely from fatty changes to cirrhosis and occasionally fulminant hepatic necrosis. They result from accumulation of copper in the liver.
For a general discussion of the underlying condition, please refer to the article Wilson disease.
Hepatic dysfunction is considered the most common manifestation of Wilson disease in childhood, usually presenting at age 10-13 years 5.
The form of liver disease varies, depending on the severity of the disease at the time of diagnosis and pathological findings include fatty changes, acute hepatitis, chronic active hepatitis, cirrhosis and occasionally fulminant hepatic necrosis
The liver can later develop cirrhosis and has several unique radiological findings in comparison to other types of cirrhosis.
Specific features include 1:
- multiple nodular lesions in the liver
- presence of perihepatic fat layer and normal caudate lobe which is contrary to other types cirrhosis.
Hepatic attenuation can be increased 7 or normal where the latter is thought to result from fatty infiltration and copper deposition canceling effects of each other. Evidence of cirrhosis may be seen in later stages.
Copper is non-ferromagnetic and therefore cannot be seen on MR imaging.
MR imaging demonstrates the contour abnormalities and parenchymal nodules of the liver in more than half of the patients with Wilson disease, which is thought to correlate with the severity of hepatic dysfunction and clinical manifestations.
- commonest finding is cirrhotic change 6
- iron in regenerative nodules may result in numerous small nodular T2 hypointensities scattered throughout the liver which can be similar to those of deposits seen in patients with cirrhosis resulting from viral infection
Treatment and prognosis
Medical treatment is usually with copper chelators (D-penicillamine, trientine) or zinc and this can achieve symptomatic improvement and normal life expectancy. Orthotopic liver transplantation is indicated in advanced cases with hepatic decompensation or in patients with fulminant Wilson disease 4.
HCC has been reported in patients with Wilson disease. However, a recent report indicated that the risk of HCC was low in Wilson disease even in cases of cirrhosis8.
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- 8. van Meer S, de Man RA, van den Berg AP, Houwen RH, Linn FH, van Oijen MG, Siersema PD, van Erpecum KJ. No increased risk of hepatocellular carcinoma in cirrhosis due to Wilson disease during long-term follow-up. (2015) Journal of gastroenterology and hepatology. 30 (3): 535-9. doi:10.1111/jgh.12716 - Pubmed