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PATIENT STORY

A 34-year-old woman on oral contraceptive pills presents with vague right upper quadrant abdominal pain and worsening abdominal distention for the past 1 month. On examination, she has right upper quadrant tenderness with hepatomegaly. Her liver function panel shows slightly elevated serum aspartate (AST) and alanine aminotransferase (ALT) but normal bilirubin and coagulation profile. A right upper quadrant ultrasound shows hepatic venous occlusion and a moderate amount of ascites. She is started on anticoagulation as well as diuretics to manage her ascites. Her oral contraceptive pills are stopped and a hypercoagulable workup is initiated. A computed tomographic (CT) scan of her abdomen is undertaken to delineate the extent of hepatic venous thrombosis and further liver pathology. She will require close follow-up to monitor her liver dysfunction and potential intervention with percutaneous or surgical procedures in the future. Figures 48-1,48-2, and 48-3 demonstrate typical images of a patient with long-standing hepatic outflow occlusion.

FIGURE 48-1

Magnetic resonance imaging (MRI) T1-weighted coronal image showing severely narrowed inferior vena cava (IVC) (solid arrows) and no evidence of hepatic veins. There are extensive intra-abdominal venous collaterals (open arrows) consistent with long-standing hepatic outflow and vena cava obstruction.

FIGURE 48-2

Magnetic resonance imaging (MRI) T1-weighted axial image showing an occluded inferior vena cava (IVC) and an enlarged caudate lobe (open arrow). There are extensive venous collaterals, including large lumbar veins (large solid arrows) and large subcutaneous veins (small solid arrows). Also seen is multifocal hepatocellular carcinoma (*) secondary to long-standing cirrhosis from Budd-Chiari syndrome.

FIGURE 48-3

Magnetic resonance imaging (MRI) with three-dimensional (3D) reconstruction highlighting the extensive perihepatic and subcutaneous venous collaterals (blue) that have developed with long-standing inferior vena cava (IVC) occlusion. The green denotes the kidneys.

EPIDEMIOLOGY

  • Rare condition that is more common in females than males and has a median age of presentation at 33 years.1

  • The annual incidence of the syndrome is approximately 0.8 per 1 million population.2

  • The syndrome can have a variety of presentations including fulminant, acute, subacute, and chronic forms depending on the extent and rapidity of the venous obstruction.3

ETIOLOGY AND PATHOPHYSIOLOGY

  • Most often related to hepatic vein thrombosis, but can also be secondary to inferior vena cava (IVC) obstruction at the level of the hepatic veins, extrinsic compression from tumor, or intrinsic congenital venous membranous webs.

  • The syndrome should be distinguished from veno-occlusive disease, which involves obliteration of the microvasculature within the liver parenchyma.

  • Underlying hematologic disorders are the most common cause and can be acquired or congenital. Polycythemia vera and paroxysmal nocturnal hemoglobinuria are the two most common hereditary conditions, whereas oral contraception usage ...

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