Budd–Chiari update

New review here (free full text provided by Medscape).

Points of interest:

Budd–Chiari syndrome is a rare disorder caused by hepatic venous outflow obstruction and resulting hepatic dysfunction....

BCS is defined as hepatic venous outflow obstruction at any level from the small hepatic veins (HV) to the junction of the IVC and the right atrium, regardless of the cause of obstruction. Outflow obstruction caused by the sinusoidal obstruction syndrome (formerly 'veno-occlusive disease') and cardiac disorders is excluded...

Hepatic venous outflow obstruction caused by external compression or invasion of the venous lumen is termed secondary BCS and is seen with malignant tumors or large cysts...

B-C can be considered a disease of thrombophilia:

At least one thrombophilic disorder is identifiable in 84% of patients and multiple disorders are found in 46%...

Myeloproliferative disorders (MPD) deserve specific mention due to their high frequency in BCS. MPD result in excess cell production by the bone marrow and include: chronic myeloid leukemia, primary myelofibrosis, polycythema rubra vera and essential thrombocytosis. These disorders are particularly common in patients with BCS and may be overt or occult (occurring with normal peripheral blood counts). MPD is found in 49% of BCS cases who undergo a bone marrow examination.

The importance of JAK 2:

In the setting of BCS or splanchnic thrombosis, the positive predictive value rises further and JAK2 (V617F) mutation is a very reliable marker for MPD. A recent meta-analysis of 23 studies reported a pooled prevalence of 37 and 24% of patients with BCS and portal vein thrombosis respectively.

That said, virtually all the other thrombophilias have been associated with B-C.

The clinical presentation can be acute (with abdominal pain) or chronic, and range from asymptomatic to acute liver failure and include encephalopathy, variceal bleeding and splenomegaly.

In addition to treatment of any underlying diseases and general supportive management of the liver disease anticoagulation, shunting, vascular stenting and transplant are discussed as treatment options. There is very limited experience with thrombolysis.