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Background

Budd-Chiari syndrome is an uncommon condition induced by thrombotic or nonthrombotic obstruction to hepatic venous outflow. It is characterized by hepatomegaly, ascites, and abdominal pain.

OUTLINE

Epidemiology  
Disease Associations  
Pathogenesis  
Laboratory/Radiologic/
Other Diagnostic Testing
 
Gross Appearance
and Clinical Variants
 
Histopathological Features
and Variants
 
Special Stains/
Immunohistochemistry/
Electron Microscopy
 
Differential Diagnosis  
Prognosis  
Treatment  
Commonly Used Terms  
Internet Links  

 

EPIDEMIOLOGY CHARACTERIZATION
SYNONYMS Obliterating endophlebitis of the hepatic veins
INCIDENCE/
PREVALENCE
Rare
AGE 3-4th decades
SEX Equal

 

DISEASE ASSOCIATIONS CHARACTERIZATION
GENERAL  
THROMBOTIC TENDENCIES

Myeloproliferative disorders,
pregnancy, tumors, chronic inflammatory diseases, clotting disorders, and infections.

 

PATHOGENESIS CHARACTERIZATION
PROTHROMBIN DEFECTS  
Inherited Prothrombotic Defects in Budd-Chiari Syndrome and Portal Vein Thrombosis
A Study From North India

Maitreyee Bhattacharyya, MD, etal.
Am J Clin Pathol 2004;121:844-847 Abstract quote

We studied 57 patients with Budd-Chiari syndrome (BCS) and 48 with portal vein thrombosis (PVT) for underlying inherited prothrombotic defects such as protein C, protein S, and antithrombin III deficiencies. Genetic mutations for factor V Leiden, prothrombin gene 20210A, and methyltetrahydrofolate reductase (MTHFR) C677T were studied in 29 patients in each group. Inherited prothrombotic defects were detected in 16 (28%) of 57 patients with BCS and 7 (15%) of 48 patients with PVT.

Factor V Leiden mutation was the most common prothrombotic defect in BCS (5/29 [17%]) followed by protein C deficiency (7/57 [12%]) and protein S deficiency (4/57 [7%]), whereas in PVT, protein C deficiency was the most common inherited prothrombotic defect (4/48 [8%]) followed by protein S deficiency (2/48 [4%]). The factor V Leiden mutation was detected in only 1 (3%) of 29 cases of PVT. The heterozygous MTHFR C677T mutation was detected in 7 (24%) of 29 patients with BCS and 6 (21%) of 29 patients with PVT.

Antithrombin III deficiency, homozygous MTHFR C677T mutation, and prothrombin G20210A mutation were not detected in any patients.
Relations of Budd-Chiari syndrome to prothrombin gene mutation.

Lin GL, Xu PQ, Qi H, Lian JH, Zheng H, Dang XW.

Department of General Surgery, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Hepatobiliary Pancreat Dis Int. 2004 May;3(2):214-8. Abstract quote  

BACKGROUND: Budd-Chiari syndrome (BCS) is a type of disease characterized by portal hypertension and/or hypertension of the inferior vena cava (IVC) due to the obstruction of the hepatic veins (HV) and/or intrahepatic IVC outlet. Being etiologically complicated and obscure, BCS can be acquired or idiopathic and several gene mutations may be contributable. This study was to explore whether prothrombin gene mutation (FII G20210A) takes part in the pathogenesis of BCS and to investigate their correlativity.

METHODS: In 38 proven BCS patients and 70 controls, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to find FII G20210A mutation. To detect whether there are any mutations, four steps were taken: purification of genome DNA from whole blood, amplification of special fragment by polymerase chain reaction, digestion of the fragment via restriction endonuclease, and analysis of results by polyacrylamide gel electrophoresis.

RESULTS: FII G20210A mutation was not detected in all patients and controls.

CONCLUSIONS: No FII G20210A mutation exists in Chinese patients with BCS, nor correlativity between the occurrence of BCS and FII G20210A mutation. The etiology of BCS in the Chinese needs further investigation.

 

LABORATORY/
RADIOLOGIC/
OTHER TESTS

CHARACTERIZATION
RADIOLOGIC  
Hepatic mass in Budd-Chiari syndrome: CT and MRI findings.

Shapiro RS, Maldjian JA, Stancato-Pasik A, Ramos R.

Department of Radiology, Mount Sinai Medical Center, City University of New York, NY 10029-6574
Comput Med Imaging Graph. 1993 Nov-Dec;17(6):457-60. Abstract quote  

We describe a case of Budd-Chiari syndrome, secondary to a hypercoagulable state, which produced a mass lesion on computerized tomography (CT) and magnetic resonance imaging (MRI) examinations.

The mass simulated a tumor, but proved to be an area of hemorrhagic necrosis upon biopsy. The finding of a space occupying lesion may not always indicate a tumor in a patient with the Budd-Chiari syndrome.

The causes, pathologic changes, and radiologic findings of Budd-Chiari syndrome are discussed.
LABORATORY MARKERS  

HISTOPATHOLOGY CHARACTERIZATION
Histologic changes mimicking biliary disease in liver biopsies with venous outflow impairment.

Kakar S, Batts KP, Poterucha JJ, Burgart LJ.

1Department of Pathology, Veteran Affairs and University of California Medical Center, San Francisco, CA, USA..
Mod Pathol. 2004 Apr 16 [Epub ahead of print] Abstract quote  

Impairment of venous outflow from the liver manifests as zone 3 sinusoidal dilatation and congestion (SDC) in liver biopsy. The spectrum of histologic changes in portal tracts has not been described.

We studied liver biopsies from 34 patients with a confirmed diagnosis of venous outflow impairment (VOI). Liver transplant recipients and biopsies with cirrhosis and hepatic neoplasms were excluded. Clinical records were reviewed for laboratory tests and radiographic findings. In all, 19 patients had right heart disease, 13 had classic Budd-Chiari syndrome and two had veno-occlusive disease.

Liver chemistry tests showed elevated liver transaminases (n=21; 61.8%), elevated alkaline phosphatase (n=31; 91.2%) and GGT (all 13 cases tested). The elevation in ALT and AST was mild (below 200 U/l in all cases), while alkaline phosphatase (ALP) was elevated above 500 U/l in nine (26.5%) patients and above 1000 U/l in three cases.

On biopsy, all cases showed SDC. The portal tracts showed (a) portal expansion with bile ductular proliferation (n=16; 47.1%) accompanied by lymphoplasmacytic infiltrate (n=10), lymphocytic cholangitis (n=3) and portal or periportal fibrosis (n=11), (b) Portal and/or periportal fibrosis without ductular proliferation (n=3; 8.8%) or (c) Normal portal tracts (n=15; 44.1%). The combination of elevated ALP and bile ductular changes on biopsy suggested chronic bile duct disease. Ultrasound/CT scan evaluation of bile ducts in 26 patients showed no biliary tree abnormality. Antimitochondrial antibody testing in eight cases also yielded negative results.

In conclusion, bile ductular proliferation, portal inflammation and portal-based fibrosis are commonly seen in liver biopsies of patients with VOI even in the absence of bile duct disease. These changes are often accompanied by elevated ALP and GGT and can lead to the suspicion of chronic biliary disease. In the absence of demonstrable abnormalities in the biliary tree, these changes can be attributed to venous outflow impairment.

 

DIFFERENTIAL DIAGNOSIS KEY DIFFERENTIATING FEATURES
GENERAL  
Histologic changes mimicking biliary disease in liver biopsies with venous outflow impairment.

Kakar S, Batts KP, Poterucha JJ, Burgart LJ.

Department of Pathology, Veteran Affairs and University of California Medical Center, San Francisco, CA, USA.
Mod Pathol. 2004 Jul;17(7):874-8. Abstract quote  

Impairment of venous outflow from the liver manifests as zone 3 sinusoidal dilatation and congestion (SDC) in liver biopsy. The spectrum of histologic changes in portal tracts has not been described.

We studied liver biopsies from 34 patients with a confirmed diagnosis of venous outflow impairment (VOI). Liver transplant recipients and biopsies with cirrhosis and hepatic neoplasms were excluded. Clinical records were reviewed for laboratory tests and radiographic findings. In all, 19 patients had right heart disease, 13 had classic Budd-Chiari syndrome and two had veno-occlusive disease.

Liver chemistry tests showed elevated liver transaminases (n=21; 61.8%), elevated alkaline phosphatase (n=31; 91.2%) and GGT (all 13 cases tested). The elevation in ALT and AST was mild (below 200 U/l in all cases), while alkaline phosphatase (ALP) was elevated above 500 U/l in nine (26.5%) patients and above 1000 U/l in three cases. On biopsy, all cases showed SDC. The portal tracts showed (a) portal expansion with bile ductular proliferation (n=16; 47.1%) accompanied by lymphoplasmacytic infiltrate (n=10), lymphocytic cholangitis (n=3) and portal or periportal fibrosis (n=11), (b) Portal and/or periportal fibrosis without ductular proliferation (n=3; 8.8%) or (c) Normal portal tracts (n=15; 44.1%). The combination of elevated ALP and bile ductular changes on biopsy suggested chronic bile duct disease. Ultrasound/CT scan evaluation of bile ducts in 26 patients showed no biliary tree abnormality. Antimitochondrial antibody testing in eight cases also yielded negative results. In conclusion, bile ductular proliferation, portal inflammation and portal-based fibrosis are commonly seen in liver biopsies of patients with VOI even in the absence of bile duct disease.

These changes are often accompanied by elevated ALP and GGT and can lead to the suspicion of chronic biliary disease. In the absence of demonstrable abnormalities in the biliary tree, these changes can be attributed to venous outflow impairment.
EPITHELIOID HEMANGIO- ENDOTHELIOMA  
Epithelioid hemangioendothelioma of the liver mimicking Budd-Chiari syndrome.

Walsh MM, Hytiroglou P, Thung SN, Fiel MI, Siegel D, Emre S, Ishak KG.

The Lillian and Henry M. Stratton-Hans Popper Department of Pathology, The Mount Sinai School of Medicine, City University of New York 10029, USA
Arch Pathol Lab Med. 1998 Sep;122(9):846-8. Abstract quote  

A case of epithelioid hemangioendothelioma of the liver in a 34-year-old man with clinical and radiologic findings suggestive of Budd-Chiari syndrome is reported.

Despite clinical and radiologic findings, percutaneous liver biopsy was suspicious for epithelioid hemangioendothelioma. The patient underwent liver transplantation 2 months later, and histologic examination confirmed this diagnosis. Unusual histopathologic features included extensive areas of capillary-thin vascular structures with open lumina, lack of significant cytologic atypia in the majority of neoplastic cells, and areas with Budd-Chiari-like features in the hepatic parenchyma surrounding the tumor. The neoplastic cells were focally immunopositive for endothelial markers, such as factor VIII-related antigen and CD34 antigen.

The unusual clinical presentation may have been due to tumor invasion and fibrous obliteration of terminal hepatic venules and sublobular veins.

Epithelioid hemangioendothelioma should be considered when evaluating patients with clinical features of Budd-Chiari syndrome or veno-occlusive disease.

 

PROGNOSIS CHARACTERIZATION

 

TREATMENT CHARACTERIZATION
GENERAL  
SHUNT  
The Budd-Chiari syndrome: outcome after treatment with the transjugular intrahepatic portosystemic shunt.

Rossle M, Olschewski M, Siegerstetter V, Berger E, Kurz K, Grandt D.

Departments of Gastroenterology and Hepatology, the University Hospital of Freiburg, Hugstetterstrasse 55, D-79106 Freiburg, Germany
Surgery. 2004 Apr;135(4):394-403. Abstract quote

BACKGROUND: The role of portosystemic shunting in the treatment of the Budd-Chiari syndrome is still under debate. Medical therapy and liver transplantation are alternative treatments. The aim of this study was to determine the outcome of a transjugular intrahepatic portosystemic shunt implantation.

METHODS: Thirty-five patients with severe Budd-Chiari syndrome and a Child-Pugh score of 9.2+/-1.9, who were not responsive to medical therapy, were elected for the transjugular shunt treatment, which was successfully accomplished in 33. Eleven patients had a fulminant/acute (history <2 months); 13, a subacute (<6 months); and 11, a chronic course of the disease. The shunt was established by using conventional self-expandable stents in 25 patients and polytetrafluoroethylene-covered stents in 8 patients. The mean follow-up was 37+/-29 months.

RESULTS: The shunt reduced the portosystemic pressure gradient from 29+/-7 to 10+/-4 mm Hg and improved the portal flow velocity from 9.2+/-11 to 51+/-17 cm/s. Clinical symptoms as well as the biochemical test results improved significantly during 4 weeks after shunt treatment. Three patients died and 2 received liver transplants. The cumulative 1- and 5-year survival rate without transplantation in all patients was 93% and 74%, respectively, and in patients with fulminant/acute disease 91% and 91% respectively (no deaths in this time period). On the average, 1.4+/-2.2 revisions per patient were needed during the mean follow-up of 3 years with a 1-year probability of 47%.

CONCLUSIONS: The transjugular shunt provides an excellent outcome in patients with severe fulminant/acute, subacute, and chronic Budd-Chiari syndrome. It may be regarded as a treatment for the acute and long-term management of these patients.
Successful treatment of acute Budd-Chiari syndrome with percutaneous transluminal angioplasty.

Shirai Y, Yoshiji H, Fujimoto M, Kojima H, Yanase K, Namisaki T, Kitade M, Yamamoto K, Sakaguchi H, Kichikawa K, Fukui H.

Third Department of Internal Medicine, Nara Medical University, 840 Shijo-cho Kashihara, 634-8522, Nara, Japan.
Abdom Imaging. 2004 Jun 8 Abstract quote

A 26-year-old man developed progressive, massive ascites and hematemesis due to rupture of esophageal varices. Combination diagnostic modalities of color doppler ultrasonography, enhanced computed tomography, and magnetic resonance imaging led to the case being diagnosed as acute Budd-Chiari syndrome with severe stricture of the intrahepatic inferior vena cava.

Percutaneous transluminal angioplasty this resulted in great improvement of the clinical manifestations.
TIPS for acute and chronic Budd-Chiari syndrome: a single-centre experience.

Mancuso A, Fung K, Mela M, Tibballs J, Watkinson A, Burroughs AK, Patch D.

Scuola di Specializzazione in Gastroenterologia ed Endoscopia Digestiva, Reparto di Medicina, Ospedale V. Cervello, Universita' di Palermo, Via Trabucco 180, 90144, Palermo, Italy.
J Hepatol. 2003 Jun;38(6):751-4. Abstract quote  

BACKGROUND/AIMS: Transjugular intrahepatic portosystemic shunt (TIPS) is a technically challenging but feasible treatment for Budd-Chiari syndrome (BCS). However, information about the outcome, particularly in patients with liver failure, is scarce. We report our experience of TIPS for BCS.

METHODS: Fifteen patients with BCS underwent TIPS. Eight had hepatic failure and seven underwent TIPS for BCS uncontrolled by medical treatment.

RESULTS: Fourteen out of 15 had successful TIPS placement. Out of the eight hepatic failure patients, four died soon after TIPS: one liver rupture, one portal vein rupture, one liver failure and one pulmonary oedema. Another patient had a significant intrahepatic haematoma, which resolved with conservative management. TIPS was successfully placed in all of the seven patients with chronic BCS, in whom there was an average follow-up of 20 months. Ascites resolved and liver function improved in all. One patient died after 18 months from the original hepatic metastatic disease. Four patients have had evidence of TIPS dysfunction requiring three balloon dilatations and one restenting. No patient has required liver transplantation.

CONCLUSIONS: TIPS should be the first line treatment for BCS uncontrolled by medical therapy. However, mortality in BCS with hepatic failure is high and liver transplantation could be a better option.
A case of Budd-Chiari syndrome successfully treated by transcatheter recanalization of the right hepatic vein and transjugular intrahepatic portosystemic shunt.

Yamada K, Nakamura K, Ogawa K, Kuroki S, Yamashita A, Morimoto A, Kaminou T, Yamada R.

Department of Radiology, Osaka City University Medical School, Osaka, Japan
Radiat Med. 1999 Jan-Feb;17(1):85-9. Abstract quote  

A 40-year-old man with Budd-Chiari syndrome due to chronic obstruction of the major hepatic veins was successfully treated by interventional radiologic procedures.

Initially, partial splenic embolization was performed to improve thrombocytopenia and coagulopathy of blood. Second, recanalization was done by thrombolic therapy.

Finally, the TIPS procedure was carried out through the recanalized right hepatic vein. This resulted in great improvement of Budd-Chiari syndrome, a marked decrease in pressure, and disappearance of gastroesophageal varices on endoscopy

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Last Updated 7/12/2004

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