Budd-Chiari Syndrome Overview 2

Overview

Budd-Chiari (pronounced bud kee-ah-ree) syndrome is a rare liver disease – even more rare in children. It involves clotting of blood in the hepatic veins, which carry blood out of the liver. When the veins of the liver are blocked, blood is prevented from flowing out of the liver and returning to the heart. Budd-Chiari syndrome produces mild to severe liver damage; this varies from patient to patient.

There are multiple causes of Budd-Chiari syndrome, mainly due to an increased tendency of the body to form blood clots. Most patients with Budd-Chiari syndrome have an underlying condition that predisposes them to blood clotting. However, in many cases, the exact cause of Budd-Chiari syndrome is unknown.

Blood disorders are the most common cause of Budd-Chiari syndrome in the United States. These mainly include myeloproliferative disorders (abnormal spread of cells from the bone marrow) such as polycythemia (an increased number of red blood cells), and sickle cell disease, a genetic blood disorder. Careful monitoring and controlling of these conditions is the most effective known method of preventing Budd-Chiari syndrome .

In adult women, Budd-Chiari syndrome has also been linked to the use of oral contraceptives (birth control pills) and pregnancy. In other cases, it may be inherited. Other known causes include:

Cancers, especially of the liver. Liver cancer is the most frequent cause of Budd-Chiari syndrome in parts of the world where liver cancer is common.
Membranous obstruction (web) in the inferior vena cava (a large vein that collects blood from the lower body and takes it to the heart), most common in Asia, India, and South Africa
    Infections
    Trauma to the liver
    Use of immunosuppressive drugs
    Phlebitis (inflammation of a vein)
    Behçet disease (an autoimmune, inflammatory disorder)

Symptoms

The most common symptom in Budd-Chiari syndrome is ascites, or fluid build-up in the abdomen. This is caused by the pressure created by blockages in the veins. The pressure also sometimes causes hepatomegaly, or enlargement of the liver. Patients may also have abnormal blood tests indicative of liver disease. Some individuals with Budd-Chiari syndrome may be jaundiced (have yellow skin). Pain in the upper right part of the abdomen is another common symptom.

Other symptoms include:

    Nausea and vomiting
    Weight loss
    Vomiting blood
    Splenomegaly (an enlarged spleen)
    Edema (swelling) of the lower limbs

Diagnosis

An internist (a physician who specializes in diseases of the internal organs), a gastroenterologist (a physician who specializes in digestive system disorders), or a general surgeon can diagnose Budd-Chiari syndrome. Often, the examining doctors first suspect cirrhosis as a cause of the symptoms in patients with Budd-Chiari syndrome. When doing a physical examination, the doctor may find that the liver is enlarged. Further testing may include:

    Laboratory blood tests to look at how well the liver is functioning
    Ultrasound of the liver to show enlargement of the liver, an irregular pattern of veins in the liver, and other abnormalities
    CT scan or MRI of the abdomen to show similar abnormalities

Once abnormalities are found, additional testing may be done:

    During a liver biopsy, doctors removes a tiny sample of liver tissue to be examined. Tissue damaged by Budd-Chiari syndrome is easily identifiable by a doctor.
    Hepatic vein catheterization in which a tube is guided through the body until it reaches the hepatic veins. An instrument at the tip of the catheter measures the pressure within the vein.

Treatment

In some cases, anti-clotting medications such as urokinase may be prescribed to break up blockages. This is usually done when the clotting is sudden, and the clots have not been in place for long.

Most patients with Budd-Chiari syndrome need surgery to unblock their veins. A balloon catheter may be used to open up the blocked hepatic veins. Many patients have surgery to insert a shunt. The shunt acts as a bypass system, rerouting blood-flow around the clotted vein and into a large vein called the vena cava.

For those who have deteriorating liver function and complications (such as cirrhosis), liver transplantation is usually the best option.

The prognosis for people diagnosed with Budd-Chiari syndrome often depends on where the blockage is, and the number of veins that are blocked. The underlying cause of the disease, time of diagnosis, duration of symptoms, and the form of treatment are also critically important factors. Long-term survival is possible when treatment is begun before permanent liver damage occurs. Liver cells can fix themselves if there is no permanent damage.