DEFINITIONBudd-Chiari syndrome (BCS) is a rare disease de ned by the obstruction of hepatic venous out ow anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Primary BCS is de ned by endoluminal obstruction as seen in thromboses or webs. Secondary BCS is when the obstruction is due to nonvascular invasion (malig-nancy or parasitic masses) or extrinsic compression (tumor, abscess, cysts).CLINICAL PRESENTATIONVariable according to the degree, location, acuity of obstruction, and presence of collateral circulation Fulminant/acute: (uncommon) severe RUQ abdominal

pain, fever, nausea, vomiting, jaundice, hepatomegaly, asci-tes, marked elevation in serum aminotransferases and drop in coagulation factors, and encephalopathy. Early recogni-tion and treatment are essential to survival.

Subacute/chronic: (more common) vague abdominal dis-comfort, gradual progression to hepatomegaly, portal hy-pertension with or without cirrhosis; late-onset ascites, lower extremity edema, esophageal varices, splenomegaly, coagulopathy, hepatorenal syndrome, and rarely, enceph-alopathy.

Asymptomatic: usually discovered incidentally.CAUSEMyeloproliferative disease, often discovered in cases of initially idiopathic BCS, 20% to 53% Polycythemia vera, responsible for 10% to 40% of cases Essential thrombocytosis Myelo brosis

Hypercoagulable states, often coexist with other causes, up to 31% Protein C de ciency Protein S de ciency Antithrombin III de ciency Activated protein C resistance/factor V Leiden mutation Prothrombin gene mutation Methylene-tetrahydrofolate reductase mutation Antiphospholipid antibody syndrome Homocystinemia Pregnancy Oral contraceptive pills Sickle cell anemia Infection:

Liver abscess (amebic) Filariasis Schistosomiasis Hydatid cyst (echinococcosis) Syphilis Tuberculosis Aspergillosis

Malignancy, 5% Adrenal carcinoma Ovarian Bronchogenic

Renal-cell carcinoma Hepatocellular carcinoma Leiomyosarcoma Metastatic cancer

Other: Sarcoid Behets disease Paroxysmal nocturnal hemoglobinuria IVC membrane/congenital web Abdominal trauma Ulcerative colitis Celiac disease Dacarbazine therapy Idiopathic

DIFFERENTIAL DIAGNOSIS Shock liver/ischemic hepatitis Viral hepatitis Toxic hepatitis Hepatic veno-occlusive disease (sinusoidal obstruction syn-

drome) Alcoholic hepatitis Cholecystitis Cardiac cirrhosis (i.e., chronic right-sided heart failure and

anything causing it) Tricuspid regurgitation Right atrial myxoma Constrictive pericarditis Alcoholic cirrhosis Cirrhosis of other etiologies:

Wilsons disease Hemochromatosis Alpha-1 antitrypsin de ciency Autoimmune

LABORATORY TESTSAssessment of liver injury and function: Serum aminotransferases, prothrombin time, albumin,

bilirubinDiagnostic tests (directed by history): CBC, bone marrow biopsy, viral hepatitis panel, alpha-1

antitrypsin, serum iron, transferrin saturation, alkaline phosphatase, ceruloplasmin, toxicology screen, antismooth muscle antibody, antimitochondrial antibody, and double-stranded DNA antibody. Tests for hypercoagulable states (particularly protein C, protein S, and antithrombin de -ciencies) may be dif cult to interpret as many levels are abnormal because of liver dysfunction. Family studies may be the only way to identify a primary hypercoagulable dis-order. Evaluation of ascitic uid reveals a high serum-ascitic uid albumin gradient (SAAG), mimicking the ascitic uid in patients with cardiac disease.

IMAGING STUDIES Color and pulsed Doppler U/S (Fig. 1961)diagnostic

sensitivity and speci city 85%-90%. MRI with gadolinium contrastbetter than contrast-

enhanced CT (Fig. 1961), sensitivity/speci city of about 90%.

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Chapter 196: Budd-Chiari syndrome 196

Chapter 196 Budd-Chiari syndrome

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A B CFig 1961A, contrast computed tomography scan of the liver in a patient with Budd-Chiari syndrome. The hepatic veins are not visualized and there is cen-trilobular congestion (nutmeg liver). B, Thrombosis in the portal vein demonstrated by sonogram, which is no longer present after infusion of tissue plasminogen activator (C).(From Young NS, Gerson SL, High KA [eds]: Clinical Hematology, St Louis, 2006, Mosby.)

Venography is not essential for diagnosis, but when done with measurement of pressure gradients is mainly indicated to predict success of surgical shunt intervention. It con rms the classic spider web pattern caused by collateral venous ow, and look for BCS in cases of high clinical suspicion when initial studies are negative.

Liver biopsy not necessary to diagnose BCS but may be help-ful in patients with cirrhosis in whom the diagnosis remains uncertain and the differential still includes sinusoidal ob-struction syndrome, cirrhosis of other origins, and malig-nancy. Of note, long-standing BCS is characterized by large, regenerative nodules in the liver that are indistinguishable from hepatocellular carcinoma on imaging.

TREATMENT Transjugular intrahepatic portosystemic shunt or stent place-

ment in the hepatic vein have been shown in case studies to provide a bridge to orthotopic liver transplantation by correcting the hepatic out ow problem. These treatments are used sequentially.

Orthotopic liver transplantation replaces the need for shunts or stents and in addition may correct the underlying coagu-lopathy causing thrombosis in the hepatic vein.

Angioplasty and stenting, in situ thrombolysis, or removal of IVC webs to decompress the portal circulation, all com-bined with anticoagulation may be indicated for acute BCS in patients in stable condition.

TIPSS (transjugular intrahepatic portosystemic stent shunt) may be a decompression option but can be especially haz-ardous in BCS patients because of the high prevalence of hepatic vein thromboses.

Liver transplant may be indicated for fulminant BCS or pa-tients that fail the previous therapies.

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196 Section 7: Digestive system

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