Romeo Ioan Chira1,2, Adriana Calauz3, Simona Manole2,4, Simona Valean1,2, Petru Adrian Mircea1,2
1) 1st Medical Clinic, Department of Gastroenterology,
2) Iuliu Hatieganu University of Medicine and Pharmacy;
3) Pneumophthisiology Clinical Hospital;
4) Emergency County Hospital, Department of Radiology, Cluj-Napoca, Romania
Congenital extrahepatic portosystemic shunt (Abernethy malformation) is a rare condition characterized by developmental abnormalities of the portal venous system resulting in the diversion of the portal blood from the liver to the systemic venous system through a complete or partial shunt of the portomesenteric blood. We report the case of an 18 year-old female examined for abdominal pain, presenting cholestasis syndrome and an elevated serum aspartate aminotransferase level. Liver ultrasound examination revealed the absence of the portal vein with a complete extrahepatic shunt of the portal blood, multiple focal liver lesions, and multiple associated vascular anomalies. A surgical portosystemic shunt and a secondary portosystemic shunt due to portal vein thrombosis were excluded, enabling the diagnosis of a congenital portosystemic shunt. A complex investigation also discovered bone anomalies, and the liver biopsy of the dominant focal lesion revealed adenoma. On a short-term follow-up under hepatoprotective medication, the biochemical parameters improved mildly; however, the size of the main focal lesion increased.
Congenital absence of the portal vein often remains an incidental diagnosis. In experienced hands, ultrasonography can diagnose it, but a comprehensive thoraco-abdominal evaluation is compulsory, considering the many potential associated anomalies. In these patients, development of adenomatous liver lesions secondary to Abernethy type Ib malformation represents an indication for liver transplantation. Key words: portosystemic shunt – portal vein agenesis – Abernethy malformation – liver adenoma. Abbreviations: AMA: anti-mitochondrial antibodies; ASMA: anti-smooth muscle antibody; ANA: anti-nuclear antibody; anti-LKM-1: liver-kidney microsomal type 1 antibodies; CEPS: congenital extrahepatic portosystemic shunt; IVC: inferior vena cava; SMV: superior mesenteric vein; SV: splenic vein.