Assessment of the Hallmarks of Wilson Disease in CT Scan Imaging

Owing to nonspecific clinical symptoms, Wilson disease (WD) diagnosis is often missed or delayed; hence, many patients reach end-stage liver disease. When cirrhosis takes place, it is difficult to distinguish between WD and other causes of cirrhosis by imaging alone. This study outlines abdominal computed tomography (CT) imaging findings that occur more frequently in patients with WD cirrhosis.

Fifty-seven patients with WD who had referred for liver transplantation took part in this study and underwent dynamic liver CT examination before transplantation. Qualitative and quantitative parameters including liver density, contour irregularity, dysmorphia, hypertrophy of caudate lobe, presence of focal parenchymal lesion, thickness of perihepatic fat layer, periportal thickness, lymphadenopathy, and other associated findings were recorded and evaluated.

Among these patients, 85.9% had contour irregularity, 28% had hepatic dysmorphia, and periportal thickening and cholelithiasis were found in 25.5% and 12.3% of patients, respectively. Splenomegaly, lymphadenopathy, and portosystemic shunting were observed in all patients. Also, hyperdense nodules (>20 mm) and honeycomb pattern were detected in 65.2% and 15.2% of patients, respectively, in the arterial phase. In the portal phase, these findings were detected only in 13% and 4.3% of patients. Hypertrophy of caudate lobe was seen only in 12.2% of patients.

WD-associated cirrhosis has many CT imaging findings, although most of them are nonspecific. Some findings, such as hyperdense nodules and honeycomb pattern in non-contrast-enhanced CT scan and arterial phase of triphasic CT scan with lack of hypertrophy of caudate lobes, are hallmarks of WD.