27: Budd–Chiari Syndrome



Overall Bottom Line


  • BCS is a vascular disorder of the liver causing outflow obstruction of blood flow.
  • BCS can present as an acute fulminant hepatic failure with massive hepatic necrosis or as complications of cirrhosis and portal hypertension.
  • The etiology is most commonly an underlying thrombotic condition leading to hepatic venous thrombosis and, rarely, a congenital web of hepatic vein/inferior vena cava.
  • The medical management of BCS depends upon early diagnosis and treatment. In the acute presentation, thrombolysis should be considered. In patients with advanced cirrhosis and complications of portal hypertension, liver transplantation is an option.






Section 1: Background



Definition of disease



  • BCS is a vascular disorder of the liver characterized by venous outflow obstruction that can occur at the level of the hepatic venules through to the right atrium leading to hepatic congestion. The most common causes of BCS are myeloproliferative disorders leading to a hypercoagulable predisposition. The presentation and management of BCS depends upon the acuity of the thrombosis.


Disease classification



  • The presentation of BCS depends on whether the venous obstruction is acute or chronic, the extent of the thrombosis, the rapidity of onset, and whether there has been time for the development of collaterals.
  • Acute BCS has features of acute hepatic ischemia and necrosis, presenting as fulminant hepatic failure.
  • Chronic BCS has features of complications of portal hypertension.


Incidence/prevalence



  • It is an uncommon disorder with an incidence of approximately 1 in 2.5 million persons per year.
  • Published data from the Western countries include one from Denmark that gave an estimated incidence rate of 0.5 per million inhabitants and year. In Sweden, the incidence and prevalence rates are reported at 0.8 per million per year and 1.4 per million inhabitants, respectively.
  • Japan in 1989 reported an estimated incidence rate of 0.2 per million and a prevalence of rate of 2.4 per million inhabitants.


Etiology



  • The etiology of BCS is most commonly an underlying thrombotic condition leading to thrombosis of the outflow vessels of the liver.
  • Both inherited and acquired procoagulant disorders have been associated with BCS in about 75% of patients, with the presence of multiple causes in the same patient being more commonly recognized.
  • The common inherited causes of hypercoagulable conditions include antithrombin III deficiency, protein C and S deficiencies, Factor V Leiden and prothrombin 20210 mutations.
  • The common acquired causes of hypercoagulable conditions include myeloproliferative disorders, paroxysmal nocturnal hemoglobinuria, antiphospholipid syndrome, malignancies, pregnancy and oral contraceptives. Of these, myeloproliferative disorders are increasingly recognized as the most prevalent underlying condition leading to thrombosis, with the JAK2 V617F mutation occurring in about 40–50% of patients with BCS.
  • Uncommon causes include congenital webs of the hepatic vein and inferior vena cava.


Pathology/pathogenesis



  • The underlying pathogenesis of the clinical features of BCS is initiated by the blockage of venous outflow of the liver. The extent to which this blockage leads to hepatic damage is dependent upon the rapidity of the obstruction and the timeliness of the intervention.
  • In the acute setting, there are minimal collateral vessels formation, and the end result is one of venous stasis and congestion, leading to hepatocyte hypoxia, hepatocyte necrosis, and liver failure, if the obstruction is not relieved. In this acute scenario, the features of fulminant hepatic failure are present, including encephalopathy and jaundice developing as a result of massive hepatocyte cell death.
  • In the subacute and chronic forms of BCS, the thrombosis is more insidious, with the benefit of time for the development of collateral circulation, and the presentation is that of progressive damage leading to cirrhosis. In about 75% of patients, the underlying cause of the thrombosis can be identified.


Predictive/risk factors





















Risk factor Odds ratio
Oral contraceptives 2.37
Inherited: Factor V Leiden, prothrombin, protein C, S, and antithrombin deficiencies N/A
Acquired: myeloproliferative disorders, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria, pregnancy N/A





Section 2: Prevention



  • The key to prevention of the progression of disease is early identification and intervention with decompression/thrombolysis when the presentation is acute, and the initiation of anticoagulation in the subacute/chronic forms before the development of complications of portal hypertension.
  • Despite these interventions, progression of disease may still occur.


Screening



  • Since the majority of patients with BCS have an underlying hypercoagulable condition, anyone who presents with a history of venous thrombosis should be screened for inherited risk factors.


Section 3: Diagnosis (Algorithm 27.1)



  • The diagnosis and clinical presentation will vary depending upon whether the thrombosis is acute or chronic.
  • The history should include the rapidity of onset of symptoms, family history of hypercoagulable states and presence/absence of portal hypertensive complications.
  • Examination should focus on stigmata of chronic liver disease (spider angiomata, muscle wasting, jaundice, asterixis, ascites) and fulminant hepatic failure specific to outflow obstruction (massive ascites, encephalopathy, jaundice).
  • Diagnostic investigations should include comprehensive metabolic panel, coagulation profile, Doppler sonogram of the liver/hepatic vessels, MRI/MRV or CT scan with intravenous contrast to assess hepatic vasculature.
  • Venogram of hepatic veins/inferior vena cava if the non-invasive testing is inconclusive.

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Aug 12, 2016 | Posted by in GASTROENTEROLOGY | Comments Off on 27: Budd–Chiari Syndrome

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