Budd–Chiari syndrome and other vascular disorders

Chapter 19 Budd–Chiari syndrome and other vascular disorders



Mack C. Mitchell, Jr., MD



Key Points



1 Hepatic vein occlusion, or Budd–Chiari syndrome, is an uncommon disorder characterized by hepatomegaly, ascites, and abdominal pain. The disorder most often occurs in patients with an underlying thrombotic diathesis including polycythemia vera, factor V Leiden mutation, protein C deficiency, paroxysmal nocturnal hemoglobinuria, tumors, and chronic inflammatory diseases.

2 The diagnosis is confirmed by visualization of thrombus or absent flow in hepatic veins on Doppler ultrasonography, three-phase computed tomography, or magnetic resonance imaging.

3 Budd–Chiari syndrome can be fatal without treatment. The approach to treatment should be stepwise, beginning with anticoagulation and followed by angioplasty or transjugular intrahepatic portosystemic shunt for portal decompression. Liver transplantation should be reserved for patients with advanced disease in whom other treatments fail. Improvements in treatment now offer 5-year survival rates of 85% to 90%.

4 Portal vein thrombosis (PVT) occurs in patients with an underlying thrombotic disorder or in patients with cirrhosis. Extension of hepatocellular carcinoma into the portal vein can also result in thrombosis. In the acute phase, anticoagulation is recommended. Band ligation of varices and beta blockers are used to prevent variceal bleeding in patients with chronic PVT.

5 Sinusoidal obstruction syndrome (veno-occlusive disease) of the liver is an occlusive disease of the small hepatic venules that mimics Budd–Chiari syndrome. It develops primarily in patients following allogeneic or autologous bone marrow transplantation, probably as a result of toxic injury to the endothelial cells caused by cytoreductive therapy. Treatment is largely supportive.


Budd–Chiari Syndrome


Budd–Chiari syndrome (BCS) results from obstruction to hepatic venous outflow and may be caused by either thrombotic or nonthrombotic occlusion.



Classification and etiology



1. BCS is classified according to the following:
a. The duration of symptoms and signs of liver disease
image Acute

image Subacute

image Chronic

b. The site of obstruction
image Small hepatic veins, excluding terminal venules

image Large hepatic veins

image Hepatic inferior vena cava (IVC)

c. The cause of obstruction
image Membranous web

image Direct infiltration by tumor or metastasis along veins

image Thrombosis

2. Most patients with BCS present within 3 months of the onset of symptoms. Most have subacute or chronic disease at the time of presentation, a finding suggesting that thrombosis of intrahepatic veins leads subsequently to occlusion of large collecting veins.

3. Membranous occlusion of the hepatic veins (MOHV) is a common cause of BCS in Asia but is rarely seen in the United States. The pathogenesis is the subject of controversy; many investigators have assumed that webs are congenital, but the onset of symptoms in the fourth decade of life and the pathologic features are more suggestive of a post-thrombotic event.

4. Most patients with BCS have an underlying thrombotic diathesis. In less than 20% of cases is the disorder idiopathic. Disorders associated with BCS include the following:
a. Hematologic disorders
image Polycythemia rubra vera

image Myeloproliferative disorder associated with Janus kinase 2 (JAK2) mutation V617F

image Paroxysmal nocturnal hemoglobinuria

image Antiphospholipid syndrome

b. Inherited thrombotic diathesis
image Factor V Leiden mutation

image Protein C deficiency

image Prothrombin gene mutation (G20210A)

image Protein S deficiency (rare)

image Antithrombin deficiency (rare)

c. Pregnancy or high-dose estrogen (oral contraceptives) use

d. Chronic infections of the liver
image Aspergillosis

image Amebic abscess

image Hydatid cysts

image Tuberculosis

e. Tumors
image Hepatocellular carcinoma

image Renal cell carcinoma

image Leiomyosarcoma

f. Chronic inflammatory diseases
image Behçet’s disease

image Inflammatory bowel disease

image Sarcoidosis


Clinical and laboratory features



1. The classic triad of hepatomegaly, ascites, and abdominal pain is seen in most patients but is nonspecific.
image Splenomegaly may develop in almost half of patients.

image Peripheral edema suggests the possibility of thrombosis or compression of the IVC.

image Jaundice is rare.

2. The natural history of untreated BCS is progression of symptoms often resulting in death caused by complications of portal hypertension. Untreated, the mortality rate is greater than 50%, except in some patients with membranous webs, in whom symptoms develop slowly.

3. Routine biochemical and hematologic parameters are as follows:
image Little value in differential diagnosis

image Abnormal but nonspecific

image No distinctive pattern of abnormalities

4. Ascitic fluid characteristics are useful clues to the diagnosis:
image High protein concentration (greater than 2.0 g/dL)

image White blood cell count usually lower than 500/mm3

image Serum-ascites albumin gradient usually 1.1 or higher

5. Differential diagnosis includes the following:
image Right-sided heart failure

image Constrictive pericarditis

image Metastatic disease involving the liver

image Hepatocellular carcinoma

image Alcoholic liver disease

image Granulomatous liver disease


Diagnosis



1. A high index of suspicion is necessary for diagnosis because clinical manifestations and laboratory results are nonspecific.

2. Imaging techniques for visualizing hepatic veins are as follows:
a. Ultrasonography
image Color-flow Doppler ultrasonography is better than duplex ultrasound, which is superior to real-time ultrasonography.

image It provides cost-effective confirmation of low or absent hepatic venous blood flow.

image It occasionally can visualize thrombus within hepatic veins.

image The sensitivity of color-flow Doppler is 85% to 90%, with similar specificity.

b. Magnetic resonance imaging (MRI) with gadolinium contrast or pulsed sequencing
image It can visualize thrombus and detect absent hepatic venous blood flow.

image It costs more than Doppler ultrasonography.

image Sensitivity and specificity are approximately 90%.

c. Three-phase computed tomography (CT) provides 85% to 90% sensitivity and specificity. It can also detect multifocal regenerative nodules (some larger than 2 cm) that develop in some patients.

3. Hepatic venography
image Thrombus within hepatic veins

image “Spider-web” pattern of collateral vessels

image Inability to cannulate the hepatic vein orifices

image Unnecessary if characteristic findings are noted on noninvasive imaging

image Usually performed in conjunction with therapeutic intervention such as transjugular intrahepatic portosystemic shunt (TIPS)

4. Pathologic findings on liver biopsy specimens
image Evidence of high-grade venous congestion

image Centrilobular liver cell atrophy

image Thrombi within terminal hepatic venules rarely seen

image Heterogeneous involvement of liver occasionally problematic (i.e., sampling error)

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Jun 4, 2016 | Posted by in GASTROENTEROLOGY | Comments Off on Budd–Chiari syndrome and other vascular disorders

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