Budd-Chiari syndrome

Budd-Chiari syndrome
ICD-10	I82.0
ICD-9	453.0
OMIM	600880
DiseasesDB	1735
MeSH	D006502

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]

Synonyms and keywords: Hepatic vein obstruction

Overview

The Budd-Chiari syndrome is the clinical picture caused by occlusion of the hepatic vein or inferior vena cava. Its presents with the classical triad of abdominal pain, ascites and hepatomegaly. Examples of occlusion include thrombosis of hepatic veins and membranous webs in the inferior vena cava. The syndrome can be fulminant, acute, chronic, or asymptomatic.

Historical perspective

Eponym It is named for George Budd and Hans Chiari.

Pathophysiology

Any obstruction of the venous vasculature of the liver is referred to as Budd-Chiari syndrome, from the venules to theright atrium. This leads to increased portal vein and hepatic sinusoid pressures as the blood flow stagnates. The increased portal pressure causes: 1) increased filtration of vascular fluid with the formation of protein-rich ascites in the abdomen; and 2) collateral venous flow through alternative veins leading to gastric varices and hemorrhoids. Obstruction also causes hepatic necrosis and eventual centrilobular fibrosis due to ischemia. Renal failure may occur, perhaps due to the body sensing an "underfill" state and subsequent activation of the renin-angiotensin pathways and excess sodium retention.

Causes

• Primary (75%): thrombosis of the hepatic vein
• Secondary (25%): compression of the hepatic vein by an outside structure (e.g. a tumor)

Often, the patient is known to have a tendency towards thrombosis, although Budd-Chiari syndrome can also be the first symptom of such a tendency. Genetic causes

• Protein C deficiency

• Protein S deficiency

• Factor V Leiden mutation

Other causes

• Antiphospholipid syndrome

• Aspergillosis

• Behcet's disease

• Dacarbazine

• Trauma
• Polycythemia vera

A related condition is veno-occlusive disease, which occurs in recipients of bone marrow transplants as a complication of their medication. Although its mechanism is similar, it is not considered a form of Budd-Chiari syndrome.

Epidemiology and Demographics

It occurs in 1 out of 100,000 individuals and is more common in females. Some 10-20% also have obstruction of the portal vein.

Risk Factors

• Estrogen-containing (combined) forms of hormonal contraception

• Pregnancy

• Paroxysmal nocturnal hemoglobinuria and 12% may acquire Budd-Chiari.

Natural History, Compliactions, Prognosis

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 survive 10 years. Important negative prognostic indicators include ascites, encephalopathy, elevatedChild-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, patients with myeloproliferative disorders may progress to acute leukemia despite treatment for Budd-Chiari syndrome.

Diagnosis

Symptoms

• Severe upper abdominal pain
• Jaundice
• Encephalopathy

The fulminant syndrome presents early with encephalopathy and ascites. An asymptomatic form may be totally silent and discovered only incidentally. It is generally not concerning.

Physical Examination

• Hepatomegaly (enlargedliver)

• Ascites

Laboratory Findings

When Budd-Chiari syndrome is suspected, measurements are made of

• Liver enzyme levels

• Creatinine

• Urea

• Electrolytes

• LDH).
• Liver biopsy is nonspecific but sometimes necessary to differentiate between Budd-Chiari syndrome and other causes of hepatomegaly and ascites, such as galactosemia or Reye's syndrome
• Severe hepatic necrosis and lactic acidosis may be present as well. Caudate lobe hypertrophy is often present. The majority of patients have a slower-onset form of Budd-Chiari syndrome. This can be painless. Patients may progress to cirrhosis and show the signs of liver failure.

Ultrasound

Budd-Chiari syndrome is most commonly diagnosed using ultrasound studies of the abdomen and retrograde angiography).

• A system of venous collaterals may form around the occlusion which may be seen on imaging as a "spider's web."

• Obliteration of hepatic veins, thrombosis or stenosis, spiderweb vessels, large collateral vessels, or a hyperechoic cord replacing a normal vein.

CT and MRI

Computed tomography (CT) or magnetic resonance imaging (MRI) is sometimes employed although these methods are generally not as sensitive.

Treatment

A minority of patients can be treated medically with sodium restriction, diuretics to control ascites, anticoagulants such as heparin and warfarin, and general symptomatic management. The majority of patients require further intervention. Milder forms of Budd-Chiari may be treated with surgical shunts to divert blood flow around the obstruction or the liver itself. Shunts must be placed early after diagnosis for best results. The transjugular intrahepatic portosystemic shunt (TIPS) is similar to a surgical shunt. It accomplishes the same goal but has a lower procedure-related mortality, which has led to a growth in its popularity. Patients with stenosis or vena caval obstruction may benefit from angioplasty. Limited studies on thrombolysis with direct infusion of urokinase and tissue plasminogen activator (tPA) into the obstructed vein have shown moderate success in treating Budd-Chiari syndrome; however, it is not routinely attempted.

Liver transplantation is an effective treatment for Budd-Chiari. It is generally reserved for patients with fulminant hepatic failure, failure of shunts, or progression of cirrhosis that reduces the life expectancy to 1 year. Long-term survival after transplantation ranges from 69-87%. The most common complications of transplant include rejection, arterial or venous thromboses, and bleeding due to anticoagulation. Up to 10% of patients may have a recurrence of Budd-Chiari syndrome after the transplant.