Budd-Chiari Syndrome

Budd-Chiari Syndrome Definition

Budd-Chiari Syndrome (BCS) is a rare liver disorder. It occurs due to blood clotting in hepatic veins, which are responsible for carrying blood from the liver. In this condition, the blood cannot flow away from the liver and return to the heart because of the blockage in the hepatic veins.

Budd-Chiari Syndrome Synonyms

The disorder is also known by other names like Hepatic Vein Obstruction and Hepatic Veno-Occlusive Disease.

Budd-Chiari Syndrome History

It was first described by George Budd in the year 1845. In 1899, Hans Chiari presented thirteen cases of BCS and described the pathology of a liver affected by the condition.

Budd-Chiari Syndrome Classification

The classification of BCS was previously done on a functional basis. However, this classification is not used at present. The disorder has been divided into four types depending on the presence of PVT or portal vein thrombosis and the venous obstruction site:

  • Single hepatic vein thrombosis without PVT
  • Single hepatic vein thrombosis with PVT
  • Isolated hepatic webs
  • Multiple obstructions in the hepatic vein with thrombosis of IVC and PVT

BCS is also classified into the chronic and acute forms, depending on its onset and duration.

Budd-Chiari Syndrome Causes

It can result from any condition that increases the risks of blood clotting within the hepatic vein. Hereditary thrombophilia is one of its possible causes, which is acquired from parents and can lead to various complications like BCS. In most cases, some underlying thrombotic diathesis is found to be causing the condition in patients. However, the exact causative factor for the clotting of the blood remains unknown in around one-third of the total cases. The possible causes of BCS include:

Hematological disorders

These involve:

Chronic infections

These include:

  • Hydatid cysts
  • Amebic abscess
  • Aspergillosis
  • Tuberculosis
  • Syphilis

Chronic inflammatory diseases

These include:

  • Inflammatory bowel disease
  • Sarcoidosis
  • Systemic Lupus Erythematosus
  • Behçet Disease
  • Mixed Connective-Tissue Disease

Inherited thrombotic diathesis

These involve:

  • Leiden Factor 5 deficiency
  • Protein C deficiency
  • Antithrombin III deficiency
  • Protein S deficiency

Tumors

These involve:

  • Hepatocellular Carcinoma or liver tumor
  • Malignant smooth muscle tumor (Leiomyosarcoma)
  • Adrenal Carcinoma
  • Renal Cell Carcinoma
  • Wilms tumor or Nephroblastoma (kidney cancer)
  • Right Atrial Myxoma (a non-cancerous heart tumor)

Budd-Chiari Syndrome Risk Factors

The risk factors for this disorder involve:

  • Dacarbazine
  • Alpha1-antitrypsin deficiency
  • Membranous webs
  • Parasitic infections
  • Trauma and injury
  • Pregnancy and postpartum

Regular use of birth control pills, combined with specific genetic defects can also lead to hypercoagulability and BCS.

Budd-Chiari Syndrome Pathophysiology

Any venous vasculature obstruction in the liver, from the venules to right atrium of an individual, is known as BCS. It results in stagnation of the blood flow which ultimately leads to significant increase in the hepatic sinusoid and portal vein pressures. The raised portal pressure increases the vascular fluid filtration with ascites formation in the abdomen. It also induces collateral venous blood flow through some alternative veins that lead to gastric, esophageal and rectal varices. The obstruction can also cause peripheral lobule fatty change and centri-lobular necrosis because of ischemia.

This condition can lead to Nutmeg Liver if not treated at an early stage. Renal failure may also occur in cases where the body senses an “underfill” condition and activates the renin-angiotensin pathways as well as excess sodium retention.

Budd-Chiari Syndrome Signs and Symptoms

The symptoms of chronic and acute BCS may vary slightly from one another. In most cases, the symptoms take a few weeks or months to develop. However, it can also be asymptomatic. The most common signs of the disease are:

  • Hepatomegaly or liver enlargement
  • Ascites or abnormal fluid collection in the abdomen
  • Abdominal pain

The hepatic vein obstruction makes it hard for the blood to flow normally out of the liver which leads to liver enlargement because of the accumulation of blood. It can also cause spleen enlargement and severe esophagus bleeding. Other symptoms of BCS include:

  • Abdominal swelling
  • Fatigue
  • Ankle and/or leg swelling
  • Confusion
  • Elevated liver enzymes
  • Coma
  • Jaundice
  • Hepatic Encephalopathy or impaired brain functioning (neurological, psychological and behavioral changes due to advanced liver disease)
  • Lactic acidosis (excessive lactic acid)
  • Liver failure because of cirrhosis or scarring of the liver
  • Prominent collateral vein
  • Nausea
  • Vomiting blood
  • Skin ulcers
  • Severe damage of liver cells

Budd-Chiari Syndrome Prevention

There is no way to ensure the prevention of this liver disease. However, screening and genetic counseling of the family members of BCS patients can help to comprehend their risk of developing the condition. This process is more assistive for those who are diagnosed with a thrombophilic disorder and have a family history of BCS.

Budd-Chiari Syndrome Diagnosis

Doctors often suspect Cirrhosis to be the main cause for this condition and perform various tests and exams to confirm this assumption. Signs of liver enlargement can be detected during a physical examination. Other diagnostic tests used for the purpose include:

  • Blood tests, to determine whether the liver is functioning properly
  • Ultrasound of liver, which can help to see if there are any symptoms of liver enlargement. It can also help in detecting other abnormalities like any irregularity in the pattern of veins within the liver.
  • MRI and CT scan of the abdomen, which are performed to detect liver enlargement and any abnormality in liver functioning

Liver biopsy is another useful diagnostic procedure. During the process, a doctor may collect a small liver tissue sample for examination. Any tissue damage due to BCS can be identified easily by this exam. Hepatic vein catheterization is also performed to determine the presence of BCS in an individual. In this test, a catheter is inserted into the body to examine the hepatic veins. The small instrument attached at the tip of the catheter helps physicians to measure the blood pressure within the hepatic veins.

Budd-Chiari Syndrome Differential Diagnosis

It is important to rule out the possibility of the following conditions during its diagnosis:

  • Cirrhosis
  • Portal Hypertension
  • Appendicitis
  • Portal Vein Thrombosis
  • Right-sided heart failure
  • Hepatic Veno-Occlusive Disease (generally occurring following a bone marrow transplantation)
  • Cystic Fibrosis
  • Biliary Atresia
  • Cytomegalovirus infection
  • Chronic granulomatous disease
  • Nephrotic Syndrome
  • Congenital Hepatic Fibrosis
  • Intussusception
  • Multicystic Renal Dysplasia
  • Intestinal Malrotation
  • Syphilis
  • Constrictive Pericarditis
  • Toxoplasmosis
  • Pancreatic Pseudocyst and Pancreatitis

The symptoms of BCS should be distinguished from those of the above mentioned disorders.

Budd-Chiari Syndrome Treatment and Management

The treatment of BCS depends on the duration of the condition and the severity of the symptoms. The rapidity of its development is another decisive factor for the treatment. Treating the underlying disorder is very important for curing this type of liver abnormality. Mild cases of BCS can be treated by proper medication while various surgical procedures are used for severe cases. Leaving the disease untreated for a long period of time can lead to fatal liver damage.

Medical Treatment

Anti-clotting drugs like urokinase are sometimes used for treating individuals who experience a sudden onset of blood coagulation within the hepatic veins. Patients should first be treated with heparin (Lipo-Hepin and Liquaemin) and then with warfarin (Coumadin) in order to correct the coagulation. These drugs are only used for treating the condition at an early stage as they do not work once the blood clots become established.

Doctors may recommend a local thrombolysis which is useful for dissolving the blood clots and is performed by interventional radiologists. Systemic thrombolysis is usually not recommended as it is considered to be a high-risk treatment endeavor.

Surgical Treatment

Individuals suffering from this disease often require surgical intervention for restoring the normal functioning of the liver. In one surgery, the blood flow is re-routed by the surgeon around the coagulated hepatic vein into the large vein named vena cava. The specific technique to be used is decided depending on the exact locations of the blood clots and various other factors. Many other surgical techniques are also used for this treatment. Liver transplantation is performed for extending the life expectancy of patients who are not otherwise likely to live more than six months.

Other radiologic interventions performed for treating patients with this type of liver disorder involve:

  • Portosystemic shunts
  • Balloon angioplasty
  • Transjugular intrahepatic portosystemic shunt (TIPS)
  • Surgical shunts

However, the success rate of these surgeries may vary from one patient to another.

Budd-Chiari Syndrome Diet

Proper nutrition is important to manage the symptoms and keep the liver from further damage. Following a low-salt diet to maintain negative sodium balance helps to control ascites.

Budd-Chiari Syndrome Prognosis

It is not a completely curable condition. However, proper treatment allows patients to have a positive prognosis and live a relatively long life. The outcome generally depends on various factors such as:

  • The area of blockage
  • The number veins blocked by blood clotting
  • The time of diagnosis
  • Duration and severity of symptoms
  • Underlying causes of the condition
  • Treatment option used for cure

Early diagnosis helps patients to enjoy a better prognosis and longer lifespan.

Budd-Chiari Syndrome Complications

If BCS is not treated properly, the following complications may arise in a patient:

  • Hepatic failure, with or without encephalopathy
  • Esophageal varices (Esophageal hemorrhage may occur)
  • Hepatorenal Syndrome
  • Portal Hypertension
  • Bacterial Peritonitis
  • Acute hepatic decompensation after shunting
  • Caudate Lobe Hypertrophy
  • Hepatocellular Carcinoma
  • Portal Vein Thrombosis (PVT)

Budd-Chiari Syndrome Life Expectancy

If left untreated, BCS can turn into a potentially fatal condition. The mortality rate reported in sufferers of the condition is around 80%. The life expectancy varies according to the degree of vein blockage. Individuals with partially blocked veins generally have a longer lifespan compared to those with a complete blockage of veins.

The typical life expectancy for people with completely blocked veins is up to 3 years after the onset of the disorder. It is possible to assure extended survival by beginning the treatment before the occurrence of any permanent liver damage. The liver cells can mend themselves unless there is any permanent damage. Long-term survival rate following successful liver transplant ranges between 69% and 87%.

Budd-Chiari Syndrome Incidence

The exact prevalence of BCS is still not known. It is a very rare condition and can occur both in children and adults. Women are believed to have a higher risk of having the disease compared to men. In some very rare instances, it can be found to affect newborn babies.

Budd-Chiari Syndrome Support Groups

A number of forums and support groups provide proper treatment guidelines and information about this liver disease to help patients understand the risks and fight them. These include:

American Liver Foundation

39 Broadway, Suite 2700

New York, New York State 10006

United States of America

Tel: (800)465-4837

Fax: (212)483-8179

Email: http://www.liverfoundation.org/contact/

Website: http://www.liverfoundation.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, Maryland 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Website: http://www2.niddk.nih.gov/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, Maryland 20898-8126

Fax: (301)251-4911

Tel: (301)251-4925

Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx

Website: http://rarediseases.info.nih.gov/GARD

Budd-Chiari Syndrome Pictures

The following images show how the blood coagulation blocks the hepatic veins and affects the liver.

Picture of Budd-Chiari Syndrome

Picture 1 – Budd-Chiari Syndrome

 Image of Budd-Chiari Syndrome

Picture 2 – Budd-Chiari Syndrome Image

Budd-Chiari Syndrome is an extremely rare and potentially fatal disease that can affect individuals from all age groups. Early diagnosis along with timely treatment is very important to assure the relatively long and normal life of the patients.