Abernethy malformation and hepatocellular carcinoma: a serious consequence of a rare disease

Abstract

Congenital portosystemic shunts (CPSS) are a rare vascular consequence of embryogenetic vascular alterations or the persistence of the fetal circulation elements, first described by John Abernethy in 1793 and classified by Morgan and Superina, into complete and partial portosystemic shunts. Its prevalence to this day has not been defined. We present a patient series of a 44-year-old and 47-year-old man and woman, with this rare congenital malformation and underlining hepatocellular carcinoma (HCC) treatment strategies. Over half of the individuals with CPSS have benign or malignant liver tumours, ranging from nodular regenerative hyperplasia, focal nodular hyperplasia, adenomas, HCC and hepatoblastomas. Additionally, it is known that half of individuals with Abernethy malformation type Ib will develop one or multiple types of tumours. There seems to be a direct association with tumorigenesis and CPSS, which is the primary consequence of absent portal flow. Surgery is the treatment of choice, either as a curative resection or orthotopic liver transplantation if recommended as per the criteria, in which replacing the hepatic parenchyma in the setting of an Abernathy malformation will correct the underlining hyper-arterialisation.

Regenerative nodules as harbinger of Abernethy malformation

“…On the basis of anatomy, Abernethy malformation can be divided into two types: type I where superior mesenteric vein (SMV) and splenic vein (SV) drain separately into the inferior vena cava (IVC), and type II where the SMV and SV form a common channel which drains into IVC 3. The majority of the patients with Abernethy malformation can also develop benign or malignant liver tumours; the spectrum ranging from nodular regenerative hyperplasia, focal nodular hyperplasia and adenoma to malignant lesions including hepatocellular carcinoma and hepatoblastoma 4. These lesions may require surgical intervention; however, the chances of recurrence are high 5.…”

“…3 The majority of the patients with Abernethy malformation can also develop benign or malignant liver tumours; the spectrum ranging from nodular regenerative hyperplasia, focal nodular hyperplasia and adenoma to malignant lesions including hepatocellular carcinoma and hepatoblastoma. 4 These lesions may require surgical intervention; however, the chances of recurrence are high. 5 To conclude, patients with Abernethy malformation may be asymptomatic at the time of diagnosis.…”

An adolescent girl in Hong Kong with type Ib Abernethy malformation complicated by multiple focal nodular hyperplasia

“…Jaklitsch et al. [15] noted that half of individuals with Abernethy malformation type Ib would develop one or multiple types of tumours, ranging from benign to malignant liver tumours. It could be interpreted as a common finding for a rare disease.…”

Congenital Extrahepatic Portosystemic Shunt Complicated by the Development of Hepatoblastoma: A Case Report and Review of Literature

“…Abernethy malformation causes bypassing of intestinal and splenic blood around the liver with direct drainage into the systemic system. There are two types of shunts: type I is defined by the complete diversion of portal blood into the vena cava with an associated congenital absence of the portal vein; and type II is characterized by an intact but diverted portal vein through a side-to-side extrahepatic connection to the vena cava [ 1 , 2 ]. Consequently, toxins from the intestine bypass the liver causing hepatic encephalopathy, pulmonary hypertension, hepatopulmonary syndrome, and increased risk of hepatic malignancies [ 3 ].…”