Budd-Chiari syndrome

Other Names: Membranous obstruction of the inferior vena cava Budd-Chiari syndrome is a rare disorder characterized by obstruction of the veins of the liver that carry the blood flow from the liver. When the blood flow out of the liver is impeded, blood backs up in the liver, causing it to enlarge (hepatomegaly). The spleen may also enlarge (splenomegaly). This backup of blood increases blood pressure in the portal vein, which carries blood to the liver from the intestines (portal hypertension), and result in dilated, twisted veins in the esophagus (esophageal varices). The severity of the disorder varies from case to case, depending on the site and number of affected veins.

Epidemiology

This syndrome occurs in 1/100 000 in the general population.

Cause and riskfactors

BCS is considered primary or secondary depending on the origin of the obstructive lesion. If obstruction is the result of endoluminal venous lesion-like thrombosis, primary BCS is considered. In secondary BCS, the cause originates from neighboring structures like extrinsic compression or tumor invasion.

• Thrombosis is the major cause of hepatic vein obstruction. The combination of one or more thrombogenic disorders and a triggering factor is necessary for venous thrombosis, particularly hepatic vein thrombosis.
• Primary myeloproliferative diseases are the leading cause of hepatic vein thrombosis, and are diagnosed in 20% of cases.
• In idiopathic BCS patients, it may be seen in up to 87%, suggesting that the majority of BCS patients have myeloproliferative disease, which is not apparent at that time. Necropsy studies showed a 6% incidence of hepatic vein thrombosis in individuals with polycythemia vera or agnogenic myeloid metaplasia. Polycythemia vera accounts for 10%-40% of cases. Essential thrombocythemia and myelofibrosis are less prevalent causes.
• Factor V Leiden leads to resistance to activated protein C. In Western countries, factor V Leiden and factor II gene mutation are found in about 25% and 5% of BCS patients, respectively.
• Levels of protein C, protein S, and antithrombin III may also be low in the presence of an acute thrombus and in patients with liver disease, including BCS.
• The use of oral contraceptives is a risk factor for BCS (particularly high-estrogen-content pills), with an approximate factor of 2.37. Hepatic vein thrombosis has been described both in pregnancy and in the immediate postpartum period.
• Hepatic vein thrombosis is seen in up to 12% of patients with paroxysmal nocturnal hemoglobinuria and is the main cause of mortality in this disorder.
• Behcet’s disease accounts for less than 5% of cases.
• Abdominal trauma, ulcerative colitis or celiac disease may be a cause of BCS combined with underlying thrombophilias.
• Compression caused by tumors of adjacent organs or polycystic kidney disease may cause BCS.

Signs and symptoms

the blood flow out of the liver is impeded, blood backs up in the liver, causing it to enlarge (hepatomegaly). The spleen may also enlarge (splenomegaly). This backup of blood increases blood pressure in the portal vein, which carries blood to the liver from the intestines (portal hypertension), and result in dilated, twisted veins in the esophagus (esophageal varices). Portal hypertension, leads to fluid accumulating in the abdomen (called ascites). The clot may extend to also block the inferior vena cava (the large vein that carries blood from the lower parts of the body to the heart). Varicose veins in the abdomen near the skin’s surface may develop and become visible. In some cases, scarring of the liver (cirrhosis) occurs. Other symptoms may include fatigue, abdominal pain, nausea, jaundice and bleeding in the esophagus.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Ascites(Accumulation of fluid in the abdomen)
• Portal hypertension
• Splenomegaly(Increased spleen size)

30%-79% of people have these symptoms

• Abdominal pain(Pain in stomach)
• Scar tissue replaces healthy tissue in the liver
• Elevated hepatic transaminase(High liver enzymes)
• Esophageal varix(Enlarged vein in esophagus)
• Fever
• Hepatomegaly(Enlarged liver)

5%-29% of people have these symptoms

• Acute hepatic failure(Acute liver failure)
• Cholecystitis(Gallbladder inflammation)
• Gastrointestinal hemorrhage(Gastrointestinal bleeding)
• Gastrointestinal infarctions(Death of digestive organ tissue due to poor blood supply)
• Intestinal obstruction(Bowel obstruction)
• Jaundice(Yellow skin)
• Malabsorption(Intestinal malabsorption)
• Peritonitis
• Weight loss

Diagnosis

• BCS should be suspected in patients with: (1) Abrupt onset of ascites and painful hepatomegaly; (2) Massive ascites with relatively preserved liver functions; (3) Sinusoidal dilation in liver biopsy without heart disease; (4) Fulminant hepatic failure associated with hepatomegaly and ascites; (5) Unexplained chronic liver disease; (6) Liver disease with thrombogenic disorder.
• Serum transferase levels may be more than five times the upper limit of the normal range, especially in the fulminant and acute forms of BCS. Serum alkaline phosphatase and bilirubin levels also increase. Serum albumin level decreases moderately.

• Doppler ultrasonography of the liver, with a sensitivity and specificity of 85% or more, is the technique of choice for initial investigation when BCS is suspected.
• Magnetic resonance imaging (MRI) should be performed as a second-line imaging modality. MRI can show the hepatic vein thrombosis and evaluate the IVC, but it is more expensive than computed tomographic (CT) scanning. Three-dimensional contrast enhanced MR angiography has similar sensitivity to hepatic venography.
• Hepatic venography is the reference procedure for the evaluation of hepatic veins, extent of thrombosis and caval pressures.

• Liver biopsy shows congestion, liver cell loss and fibrosis predominantly located in the centrilobular area. Liver biopsy is important in differentiation of BCS from veno-occlusive disease, which is characterized by nonthrombotic obstruction of hepatic venules by subendothelial swelling due to injury of sinusoidal wall.

Differential diagnosis

BCS and cardiac disorders may have similar clinical features. In patients with suspected cardiac disorders like tricuspid regurgitation and constrictive pericarditis, differential diagnosis from cardiac disorders must be done. Echocardiography is helpful for differentiation, but further investigations are sometimes needed.

Treatment

The treatment of Budd-Chiari syndrome varies, depending on the cause of the blockage. Medical treatments may include:

• Blood-thinning (anticoagulation) medications
• Clot-busting drugs (thrombolytic treatment)
• Treatment for the liver disease, including ascites

Surgical treatments may also be considered and include:

• Angioplasty and stent placement
• Transjugular intrahepatic portosystemic shunt (TIPS)
• Venous shunt surgery

While medical therapy can be instituted for short-term, symptomatic benefit, medical therapy alone has been associated with a high 2-year mortality rate (80-85%).

• In cases of severe cirrhosis liver transplant may be needed.

Prognosis

Several studies have attempted to predict the survival of patients with Budd–Chiari syndrome. In general, nearly 2/3 of patients with Budd–Chiari are alive at 10 years. Important negative prognostic indicators include ascites, encephalopathy, elevated Child-Pugh scores, elevated prothrombin time, and altered serum levels of various substances (sodium, creatinine, albumin, and bilirubin). Survival is also highly dependent on the underlying cause of the Budd–Chiari syndrome. For example, a patient with an underlying myeloproliferative disorder may progress to acute leukemia, independently of Budd–Chiari syndrome.

NIH genetic and rare disease info

• NIH info on Budd-Chiari syndrome

Budd-Chiari syndrome is a rare disease.

Budd-Chiari syndrome Resources
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