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

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.

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Liver tumours

10.1093/med/9780198569862.003.0060 ◽

2011 ◽

Author(s):

R. Mark Beattie ◽

Anil Dhawan ◽

John W.L. Puntis

Keyword(s):

Hepatocellular Carcinoma ◽

Liver Disease ◽

Focal Nodular Hyperplasia ◽

Mesenchymal Hamartoma ◽

Nodular Regenerative Hyperplasia ◽

Age Group ◽

Inflammatory Pseudotumour ◽

Liver Tumours ◽

Nodular Hyperplasia ◽

Paediatric Age

Infantile haemangiomata 440Mesenchymal hamartoma 441Focal nodular hyperplasia (FNH) 441Nodular regenerative hyperplasia (NRH) 441Hepatoblastoma 442Hepatocellular carcinoma (HCC) 442Inflammatory pseudotumour 443Fibropolycystic liver disease 443Liver tumours in children are rare, accounting for 0.5–2% of all neoplasms in the paediatric age group....

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Liver tumours

10.1093/med/9780198759928.003.0066 ◽

2018 ◽

Author(s):

Marianne Samyn

Keyword(s):

Hepatocellular Carcinoma ◽

Focal Nodular Hyperplasia ◽

Mesenchymal Hamartoma ◽

Nodular Regenerative Hyperplasia ◽

Liver Tumours ◽

Nodular Hyperplasia ◽

Infantile Haemangiomas

The chapter on liver tumours covers the features and management of infantile haemangiomas, mesenchymal hamartoma, focal nodular hyperplasia, nodular regenerative hyperplasia, hepatoblastoma, and hepatocellular carcinoma.

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Abernethy Malformation – a Rare but Important Diagnosis Prior to Liver-Directed Therapy for Hepatocellular Carcinoma

American Journal of Interventional Radiology ◽

10.25259/ajir_25_2019 ◽

2019 ◽

Vol 3 ◽

pp. 9

Author(s):

Nainesh Parikh ◽

Kun Jiang ◽

Kim Truong

Keyword(s):

Hepatocellular Carcinoma ◽

Case Report ◽

Portal Vein ◽

Portosystemic Shunt ◽

Left Hepatic Lobe ◽

Abernethy Malformation ◽

Hepatic Lobe ◽

Portosystemic Shunts ◽

Congenital Extrahepatic Portosystemic Shunt ◽

The Right

A 45-year-old man with incidentally discovered, unresectable HCC were treated with TACE to the left hepatic lobe and TARE to the right hepatic lobe. Upon retrospective review, he was found to have a congenital extrahepatic portosystemic shunt with the absence of the portal vein (Abernethy malformation). This case report discusses variant splanchnic and portal anatomy in the setting of rare, congenital portosystemic shunts and evaluates types of liver-directed therapies for HCC in this setting.

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Childhood Liver Tumours

Oxford Textbook of Cancer in Children ◽

10.1093/med/9780198797210.003.0030 ◽

2020 ◽

pp. 262-269

Author(s):

Giorgio Perilongo ◽

József Zsiros

Keyword(s):

Hepatocellular Carcinoma ◽

Treatment Strategies ◽

The Novel ◽

Liver Tumours ◽

Tumour Extension ◽

Primary Liver Tumours ◽

Pre Treatment ◽

Stratification System ◽

Risk Stratification System

Childhood liver tumours are a heterogeneous group of neoplasms encompassing individually rare histological varieties. This chapter discusses the two most frequent subtypes—hepatoblastoma and hepatocellular carcinoma. In relation to hepatoblastoma, it covers the biology, epidemiology, clinical presentation, diagnosis, and discusses the different treatment strategies including risk-adapted treatment and orthotopic liver transplantation. The chapter reviews the renewed histological classification of paediatric primary liver tumours, the revised PRETEXT (pre-treatment extent) system to describe tumour extension, and the novel risk-stratification system for hepatoblastoma. It also reviews the treatment results and the prognosis of patients with hepatoblastoma. Finally, the chapter discusses the even rarer tumour, hepatocellular carcinoma.

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Congenital Extrahepatic Portosystemic Shunt (Abernethy Malformation Type Ib) With Associated Hepatocellular Carcinoma

Pediatric and Developmental Pathology ◽

10.1177/1093526616686458 ◽

2017 ◽

Vol 20 (4) ◽

pp. 354-362 ◽

Cited By ~ 22

Author(s):

Mark Benedict ◽

Manuel Rodriguez-Davalos ◽

Sukru Emre ◽

Zenta Walther ◽

Raffaella Morotti

Keyword(s):

Hepatocellular Carcinoma ◽

Portal Vein ◽

Vena Cava ◽

Clinical Manifestations ◽

Portosystemic Shunt ◽

Congenital Absence ◽

Nodular Regenerative Hyperplasia ◽

Type I ◽

Small Hepatocellular Carcinoma ◽

Abernethy Malformation

Abernethy malformation, also termed congenital portosystemic shunt and congenital absence of portal vein is the result of malformation of the splanchnic venous system. Congenital portosystemic shunts are divided into extra- and intrahepatic shunts. Two shunts have been defined: Type I is characterized by the complete diversion of portal blood into the vena cava with an associated congenital absence of the portal vein. Type II is defined by an intact but diverted portal vein through a side-to-side, extrahepatic connection to the vena cava. The clinical manifestations of Abernethy malformation are diverse with a typical presentation consisting of hypoxia and hepto-pulmonary syndrome. Histologically, focal nodular hyperplasia, nodular regenerative hyperplasia, liver adenoma, hepatoblastoma, and hepatocellular carcinoma have all been reported. Herein, we report a case of Abernethy malformation, type Ib, in a 12-month-old male who was found to have a small hepatocellular carcinoma at the time of explant. The immunohistochemical characteristics in relation to the genetic aspects are discussed. To our knowledge, this is the first reported case of hepatocellular carcinoma developing in a patient who is under the age of 5 years with Abernethy malformation.

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Risk Factors for Hepatic Encephalopathy after Transjugular Intrahepatic Portosystemic Shunt in Patients with Hepatocellular Carcinoma and Portal Hypertension

Journal of Gastrointestinal and Liver Diseases ◽

10.15403/jgld.2014.1121.243.yao ◽

2015 ◽

Vol 24 (3) ◽

pp. 301-307 ◽

Cited By ~ 8

Author(s):

Jiannan Yao ◽

Li Zuo ◽

Guangyu An ◽

Zhendong Yue ◽

Hongwei Zhao ◽

...

Keyword(s):

Risk Factors ◽

Hepatocellular Carcinoma ◽

Portal Hypertension ◽

Hepatic Encephalopathy ◽

Pressure Gradient ◽

Transjugular Intrahepatic Portosystemic Shunt ◽

Meld Score ◽

Portosystemic Shunt ◽

Portal Flow ◽

Intrahepatic Portosystemic Shunt

Aims: This study aimed at assessing the risk factors for hepatic encephalopathy (HE) after transjugular intrahepatic portosystemic shunt (TIPS) in patients with hepatocellular carcinoma (HCC) and portal hypertension. Method: Consecutive patients (n=279) with primary HCC who underwent TIPS between January 1997 and March 2012 at a single institution were retrospectively reviewed. Patients were followed up for 2 years. Pre-TIPS, peri-TIPS and post-TIPS clinical variables were reviewed using univariate and multivariate analyses to identify risk factors for HE after TIPS. Results: The overall incidence of HE was 41% (114/279). Multivariate analysis showed an increased odds for HE in patients with: >3 treatments with transcatheter arterial chemoembolization (TACE) and/or trans-arterial embolization (TAE) (odds ratio [OR], 4.078; 95% confidence interval [95%CI], 1.748-9.515); hepatopetal portal flow (OR, 2.362; 95%CI, 1.032-5.404); high portosystemic pressure gradient (OR, 1.198; 95%CI, 1.073-1.336) and high pre-TIPS MELD score (OR, 1.693; 95%CI, 1.390-2.062). Odds for HE were increased 1.693 fold for each 1-point increase in the MELD score, and 1.198 fold for each 1-mmHg decrease in the post-TIPS portosystemic pressure gradient. Conclusion: The identification of clinical variables associated with increased odds of HE may be useful for the selection of appropriate candidates for TIPS. Results suggest that an inappropriate decrease in the portosystemic pressure gradient might be associated with HE after TIPS. In addition, >3 treatments with TACE/TAE, hepatopetal portal flow, and high MELD score were also associated with increased odds of HE after TIPS. Key words: – – – .

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