Evaluation of diagnostic criteria for mild-to-advanced stages of Fontan-associated liver disease: A nationwide epidemiological survey in Japan.

AIM

Fontan-associated liver disease (FALD) is a complication after Fontan surgery, and a common cause of liver tumors and cirrhosis. However, no diagnostic criteria for FALD have been established, leading to an underestimation of its prevalence.

METHODS

We conducted a national survey to elucidate the characteristics of FALD by collecting data from high-volume centers managing patients who had undergone the Fontan surgery in Japan. In total, 1168 patients were enrolled in the study. First, we examined typical liver findings on ultrasonography after the Fontan surgery. Next, we proposed diagnostic criteria for FALD and advanced FALD based on blood tests, imaging, liver tumors, and pathological examinations. We investigated the sensitivity of histologically diagnosed FALD and advanced FALD based on criteria for blood or imaging tests.

RESULTS

Hepatomegaly, hepatic venous dilatation, caudate lobe enlargement, splenomegaly, liver atrophy, ascites, hepatocellular carcinoma, and hepatic tumors other than hepatocellular carcinoma were observed in 37.7%, 29.9%, 18.4%, 33.2%, 3.2%, 6.0%, 0.85%, and 10.0% of patients, respectively. Typical ultrasound findings of FALD included hepatomegaly, hepatic vein dilatation, and splenomegaly, reflecting liver congestion. With the progression of fibrosis, caudate lobe enlargement and splenomegaly became more prominent. Based on these findings, we proposed diagnostic criteria for FALD. Using these criteria, FALD was diagnosed in 1014 (86.8%) of the patients, and all patients with a pathological diagnosis of FALD were successfully identified. Eight patients were found to have pathological cirrhosis, and all were diagnosed with advanced FALD using our criteria based on blood tests or imaging.

CONCLUSION

Our diagnostic criteria facilitate detection of FALD or advanced FALD after the Fontan surgery. The accuracy of these criteria should be further evaluated.