Value of carbon dioxide wedged venography and transvenous liver biopsy in the definitive diagnosis of Abernethy malformation

Abstract

We report a 25-year-old man who presented with congenital absence of the portal vein, or Abernethy malformation, a rare congenital disorder in which the mesenteric and splenic venous drainages bypass the liver and directly drain into the inferior vena cava through an extrahepatic portosystemic shunt. Magnetic resonance imaging, which showed multiple nodular lesions in both liver lobes that were associated with an absence of intrahepatic portal venous branches, strongly suggested the diagnosis of the Abernethy malformation. Carbon dioxide wedged venography and transvenous liver biopsy, which were performed in the same session by a right jugular approach, confirmed these findings. This technique can be considered a valuable alternative diagnostic tool to catheter arteriography and percutaneous transhepatic liver biopsy.

Insight into congenital absence of the portal vein: Is it rare?

“…It has such advantages over indirect portography obtained during visceral arteriography [108] as only a venous puncture is required, free and wedged pressure measurements can be obtained with no iodinated contrast medium injected, and transvenous liver biopsy can be made at the same time. However, opacification of portal vein branches could not be obtained [35] . Portovenography can facilitate measurement of the pressure gradient indicating vein blood flow and selected embolism shunts as a therapy.…”

“…Although cross-sectional imaging in most cases can approximately suggest the diagnosis of portal vein disorder, the definitive diagnosis can be made only with catheter angiography [15] and by additional histological analysis of the hepatic parenchyma that demonstrates the absence of hepatic portal venules within the portal triad [35] . Mesenteric portovenography, a usually indirect technique depicting the portal system anatomy, can clarify CAPV abnormality and extrahepatic shunts.…”

“…The liver volume is often larger than normal because of the regenerative or hyperplasia nodular change and sometime hepatomegaly might be observed [15] . Moreover, the mass can cause a series of mechanical pressure symptomes, such as mild intermittent jaundice and pruritus [35] . Nevertheless, the liver size may be small due to insufficient portal vein supply or lobular hypoplasia [41,42] .…”

“…Other than CAPV, many cases are presented with liver abnormalities, including FNH [7,15,[18][19][20][21][22][23][24][25][26][27][28][29][30] or nodular regenerative hyperplasia (NRH) [8,[31][32][33][34][35] . Several patients have been found to have combined hepatocellular adenoma [31,36,37] .…”

“…CAPV needs liver transplantation and surgical ligation of the patent ductus venosus [18] . It is difficult to differentiate hepatic benign lesions (FNH, FNH-like lesions, and NRH) from malignant lesions (HCC or hepatoblastoma) by imaging except in cases of such abnormal hepatic circulation while transvenous liver biopsy is a valuable alternative diagnostic tool [35,119] . Intrahepatic portal vasculature abnormalities should be differentiated from congenital diseases, such as idiopathic non-cirrhotic PH, portal venous hypoplasia, or hepatic microvascular dysplasia.…”