Budd-Chiari syndrome

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Diagnosis and reasoning

This young man has presented with classical symptoms and signs of chronic liver disease. The main question now is: 'why is this ?'. The usual suspects can be rapidly excluded, given the absence of blood transfusions, promiscuity, a family history of liver disease, alcohol abuse, or use of hepatotoxic drugs. It is important to appreciate that certain herbal supplements and 'native' (i.e. Chinese or Indian) medications may have a hepatotoxic effect; in many instances, patients may not mention their use unless directly asked. Note the engorgement of the superficial vessels of the anterior abdomen and chest, with blood flowing towards the superior vena cava; this is an extremely important clue which hints at inferior vena caval (IVC) obstruction. This should not be confused with caput medusae seen in portal hypertension. Consider also the presence of tender hepatomegaly - as this is chronic liver disease, one would expect the liver to be shrunken due to fibrotic changes. Thus, this finding is suggestive of hepatic venous congestion secondary to IVC obstruction - i.e. Budd-Chiari syndrome. In addition, the splenomegaly indicates that portal hypertension is also present. An ultrasound scan is a good initial imaging investigation as it is rapid and noninvasive. Not only does this confirm the presence of hepatosplenomegaly; but it also shows massive enlargement of the caudate lobe of the liver. The caudate lobe has its own anastomosis to the IVC, allowing it to function even when the remainder of the hepatic venous system is obstructed; this results in functional hypertrophy of the lobe. This is further evidence in support of Budd-Chiari syndrome. A doppler ultrasonogram of the hepatobiliary system is an essential confirmatory test. This shows a dilated IVC which is partially occluded by thrombus, with no evidence of intrahepatic venous obstruction, confirming the clinical diagnosis. A coagulation profile (and other tests for prothrombotic states) is important to determine if the thrombus is secondary to an underlying hypercoagulable state; in addition, this will reveal if there is a coagulopathy secondary to the chronic liver disease (note that a coagulopathy and a hypercoagulable state can coexist in the same individual). Testing for the Hepatitis B surface antigen and Hepatitis C antibodies is unnecessary here, as there are no clinical findings suggestive of an infectious aetiology. A Transjugular Intrahepatic Portosystemic Shunt (TIPS) procedure will decompress the hepatic vasculature and relieve the portal hypertension; anticoagulation should be commenced to prevent further extension of the thrombus. Note that he has decompensated liver failure (as evidenced by the ascites, jaundice and portal hypertension) - thus he should probably be offered liver transplantation down the line. Prior to this, a liver biopsy to determine the reversibility of the damage may be considered; in addition, a formal assessment should be made using the Model for End-stage Liver Disease (MELD) score or Child-Pugh score. Pegylated interferons are used in the management of chronic hepatitis C infection, and are not indicated here.


Discussion

Budd Chiari Syndrome is a rare condition caused by thrombotic or non-thrombotic obstruction to the hepatic venous outflow. The syndrome most often occurs in individuals with an underlying thrombotic diathesis. While the classic triad of abdominal pain, ascites, and hepatomegaly is observed in the vast majority of patients, it is not specific for the disease. Therefore a high index of suspicion is essential to clinch the diagnosis. There are four main clinical variants of Budd-Chiari syndrome: the acute form, subacute form, fulminant form, and chronic form. The acute and subacute forms are characterized by rapid development of abdominal pain, ascites, hepatomegaly, jaundice, and renal failure. The chronic form is the most common; this typically presents with progressive ascites. The fulminant form is rare. Diagnostic paracentesis may provide useful clues to the diagnosis. The serum–ascitic fluid albumin gradient (SAAG) will be high (i.e. suggestive of a transudate) - but the total protein level in the ascitic fluid is usually over 2.5 g /dL (i.e. suggestive of an exudate) . Abdominal ultrasonography is useful to confirm the presence of hepatosplenomegaly; the presence of enlargement of the caudate lobe of the liver may provide further evidence for the diagnosis. Color-flow Doppler ultrasonography is the preferred mode for visualisation of thrombi, with a sensitivity and specificity of around 85% to 90%. Hepatic Venography and Inferior Vena Cavography are useful to observe thrombi in the hepatic veins and IVC, and to additionally detect the presence of portal hypertension. Magnetic resonance imaging (MRI) with pulsed sequencing may also help in assessment of the hepatic venous blood flow; the sensitivity and specificity is ~90%. A coagulation profile and tests for prothrombotic states (e.g. Factor V Leiden, Prothrombin G20210A, Antithrombin III deficiency, Protein C deficiency, Protein S deficiency, etc) is useful in determining if an underlying hypercoagulable state is present. Medical therapy can provide short-term symptomatic benefit; key goals of such therapy include controlling the ascites, prevention of further extension of venous thrombosis (if present), and treatment of any underlying causes. The ascites can be managed by restricting sodium intake, administering spironolactone and/or furosemide, and by therapeutic paracentesis and intravenous infusions of albumin as appropriate. If thrombotic obstruction is present, Heparin therapy is recommended in the initial stages to prevent further extension. Warfarin is then used for long-term anticoagulation, with the target INR being between 2.0 to 2.5. Decompression of the hepatic vasculature by surgery or TIPS is important if portal hypertension is present. If decompensated liver failure is present, liver transplantation should be offered, after assessing the reversibility of the liver damage. This can be determined by evaluating the duration of symptoms, degree of impairment of hepatic synthetic function, severity of encephalopathy, and extent of cirrhosis or fibrosis on biopsy. The prognosis is poor in individuals who remain untreated; death typically results from progressive liver failure within 3 months to 3 years from the time of diagnosis. Following TIPS the 5-year survival rate ranges from 38% to 87%.


Take home messages

  1. The classic triad of abdominal pain, ascites, and hepatomegaly characterises Budd Chiari Syndrome.
  2. A high index of suspicion is needed to clinch the diagnosis as the clinical features are nonspecific and are often mistaken for cirrhosis with portal hypertension.
  3. Affected patients should be screened for an underlying hypercoagulable state.
  4. The prognosis is poor in individuals who remain untreated.

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