Clinical features, treatment strategies and outcomes of hepatocellular carcinoma in association with type 1 Abernethy malformation: an evaluation of a pooled case series.

INTRODUCTION AND

OBJECTIVES

Abernethy malformation, also known as congenital extrahepatic portosystemic shunt (CEPS), is a rare vascular anomaly characterized by diversion of portal venous blood into the systemic circulation. In type I CEPS, intrahepatic portal venous branches are absent, resulting in complete bypass of portal inflow to the liver. Hepatocellular carcinoma (HCC) has been reported as a rare but serious complication of this condition and published data are limited to isolated case reports and small series.

MATERIALS AND

METHODS

We performed a pooled descriptive analysis of published case reports describing histologically confirmed HCC arising in patients with type I Abernethy malformation. Only cases with complete diversion of portal flow and absent intrahepatic portal branches were included. In addition, one case from our institution was incorporated. Demographic characteristics, clinical presentation, laboratory findings, imaging features, management strategies, and reported outcomes were extracted and summarized descriptively.

RESULTS

Eighteen patients were identified. The median age at HCC diagnosis was 45.5 years and 13/18 (72%) of patients were male. Clinical presentation varied; 7/18 (39%) of patients were asymptomatic and had tumors that were detected incidentally, while abdominal pain was the most common presenting symptom, with 7/18 (39%) patients presenting with this complaint. Liver biochemistry was normal or mildly abnormal in 13/18 patients (72%), and alpha-fetoprotein was normal or minimally elevated in 13/18 (72%). Cardiac anomalies were present in 7/18 patients (39%), and 9/18 (50%) had multisystem comorbidities. Management strategies included liver transplantation, surgical resection, and locoregional therapies, including transarterial radioembolization and stereotactic body radiation therapy. At last follow-up, 9/18 patients (50%) were alive without recurrence.

CONCLUSIONS

Hepatocellular carcinoma arising in type I Abernethy malformation occurs across a wide age range and often without serum tumor marker elevation. Imaging-based surveillance and anatomy-driven management strategies are essential to optimize outcomes.