Volume 7, Issue 9 , Pages e55-e56, September 2009
A Case of an Unsuspected Cause of Budd–Chiari Syndrome
Article Outline
A 22-year-old woman presented with a 12-month history of pruritus, nocturnal sweats, and increasing abdominal girth. She otherwise enjoyed good health, and her only medication was the oral contraceptive pill.
An abdominal computed tomography scan showed ascites and hepatomegaly, with a hypertrophied caudate lobe and compression of the inferior vena cava (IVC) (Figure A, arrow). A computed tomography–guided liver biopsy showed disrupted architecture, with central sclerosis obliterating the central veins and surrounding liver parenchyma with encroachment on the portal tracts. The sclerotic areas contained vacuolated cells with eccentrically placed nuclei that were thought to be hepatocytes with fat (Figure B, arrow). Hepatic venography revealed complete occlusion of the main left hepatic vein and branches of right and middle hepatic veins. There was extrinsic narrowing of intrahepatic segment of the IVC. She was diagnosed with chronic Budd–Chiari syndrome (BCS), commenced on diuretics, and the oral contraceptive was ceased. Four years later, she was referred to a hepatologist because of worsening ascites. She was found to have hepatosplenomegaly, ascites, multiple spider nevi, and prominent veins on the anterior abdominal wall and lumbar region suggestive of portosystemic collaterals and IVC obstruction. Investigations revealed elevation of her alkaline phosphatase at 356 U/L and γ-glutamyltransferase at 169 U/L. Screening for procoagulants revealed an elevated serum homocysteine 16.5 μmol/L (normal, 4–14 μmol/L) and heterozygosity for the prothrombin gene mutation guanine to adenine at position 20210. Upper endoscopy revealed small esophageal varices.
Because of resistant ascites, increasing fatigue, and decrease in her muscle bulk, she proceeded to orthotopic liver transplantation. The explant liver showed almost complete replacement of the hepatic parenchyma by multiple pale brown nodules surrounded by severe congestion. There was no thrombosis of the hepatic veins. Histology revealed the nodules consisted of fibrotic stroma containing single cells and cells arranged in cords. There were plump epithelioid cells with eosinophilic cytoplasm and atypical nuclei with prominent nucleoli and intracytoplasmic lumina containing red blood cells. No mitoses were evident. There was extensive involvement of the hepatic sinusoids, terminal hepatic veins, and some portal veins, with filling and obliteration of some vessel lumina but no involvement of the portal vein at the hilum. Immunoperoxidase stains showed the epithelioid cells were positive for the endothelial cell markers CD31 and CD34. The morphology and immunophenotype of the lesion were those of an epithelioid hemangioendothelioma (EHE). Staining of the original biopsies for CD34 showed positivity of the atypical vacuolated cells, suggesting these cells were of endothelial origin (Figure C, brown positive stain, arrow). Seven years after transplant, she remains well and gave birth to a healthy baby in 2008.
Hepatic EHE is a rare, low-grade malignant neoplasm of vascular origin and most commonly presents with nonspecific symptoms, but presentation with BCS has been previously reported.1 This case displayed clinical features of BCS from hepatic vein thrombosis, the imaging modalities used supported this, and liver biopsy was also considered to be consistent with this clinical diagnosis. This was also supported by the discovery of factors that might predispose to venous thrombosis (oral contraceptive use, hyperhomocysteinemia, and prothrombin gene mutation 20210). After the diagnosis was made at transplantation, review of the original biopsy showed features consistent with EHE, and subsequent immunochemical stains of the initial liver biopsy for CD34 were positive, showing that the correct diagnosis could have been made 5 years earlier if it had been considered. Although liver transplantation has been widely used in the treatment of both BCS and hepatic EHE,2 transjugular intrahepatic portosystemic shunt (TIPS) has recently been shown to provide good long-term outcome in patients with severe BCS.3 If the diagnosis of EHE is made, transplantation and not TIPS would be considered the preferred treatment. For this reason it is important to consider the possibility of hepatic EHE in a patient presenting with BCS and to search for cells of vascular endothelial origin by doing specific immunohistochemical stains on the liver biopsy.
References
- Epithelioid hemangioendothelioma of the liver mimicking Budd-Chiari syndrome. Arch Pathol Lab Med. 1998;122:846–848
- The place of liver transplantation in the treatment of hepatic epithelioid hemangioendothelioma: report of the European Liver Transplant Registry. Ann Surg. 2007;246:949–957
- TIPS for Budd-Chiari syndrome: long-term results and prognostics factors in 124 patients. Gastroenterology. 2008;135:808–815
Conflicts of interest The authors disclose no conflicts.
PII: S1542-3565(09)00377-2
doi:10.1016/j.cgh.2009.04.017
© 2009 AGA Institute. Published by Elsevier Inc. All rights reserved.
Volume 7, Issue 9 , Pages e55-e56, September 2009
