Clinical Pearls & Morning Reports

Posted by Carla Rothaus

Published April 5, 2023


What is the most common underlying disorder in patients with primary Budd–Chiari syndrome?

Primary Budd–Chiari syndrome (BCS) is characterized by obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. Read the NEJM Review Article here.

Clinical Pearls

Q: What is the median age at diagnosis of primary BCS?

A: The primary form of BCS is extremely rare, with the prevalence estimate (1 case per 1 million persons per year) falling well below the threshold of 2 cases per 10,000 for rare diseases. The median age at diagnosis is 35 to 40 years. The two sexes appear to be equally affected. BCS is most easily diagnosed by identifying obstruction of the hepatic venous system on imaging. Detection of intrahepatic or cavocaval collaterals provides strong support for the diagnosis, although such features can also be encountered in portosinusoidal vascular disease.

Q: Name the most common underlying disorder in patients with primary BCS.

A: An underlying disorder, such as a hereditary or an acquired hypercoagulable state, can be found in approximately 75% of patients, and in at least one third of patients, more than one prothrombotic condition is identified. Myeloproliferative neoplasia is the most frequent underlying condition leading to BCS. Therefore, if BCS is suspected, testing should be performed for driver somatic mutations in the gene encoding Janus kinase 2, including V617F and exon 12 mutations, and in the genes encoding calreticulin and the thombopoietin receptor. Other prothrombotic disorders that have been associated with BCS include factor V Leiden, paroxysmal nocturnal hemoglobinuria, and antiphospholipid syndrome.

Morning Report Questions 

Q: What are some of the clinical features of BCS?

A: Demographic and clinical characteristics of patients with BCS are extremely varied and nonspecific. The absence of clinical manifestations is not rare. The combination of abdominal pain, fever, an enlarged liver, and ascites of recent onset, which is regarded as suggestive of BCS, is far from common. Therefore, it is important to evaluate for an obstructed hepatic venous outflow tract in any patient with any (> 80% at 3 years). However, the risk markedly changes if the diagnosis is established early and adequate management is provided. Indeed, when BCS is managed appropriately, survival at 5 years exceeds 80%.

Q: How is primary BCS managed?

A: Treatment of BCS includes treatment of the underlying prothrombotic disorder and restoration of hepatic venous outflow. The best approach for improving hepatic venous outflow is a progressive therapeutic strategy, starting with less invasive treatments and progressing to more invasive treatments according to the clinical response. All patients with BCS should receive long-term anticoagulant therapy, even in the absence of a recognized prothrombotic disorder. In cases of segmental vein stenosis affecting the inferior vena cava or the hepatic vein, percutaneous transluminal angioplasty with or without stenting may restore physiologic hepatic venous outflow and relieve symptoms. For patients in whom the disease progresses, the next step is to decompress the liver by converting the portal system to an outflow tract. At present, placement of a transjugular intrahepatic portosystemic shunt is the preferred method. Liver transplantation is generally the last option for patients in whom other treatments have failed or patients who are ineligible for alternative treatments, although transplantation may be performed early in patients with liver failure.

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