Budd-Chiari Syndrome

Question 1

…-… syndrome is a vascular liver disorder due to obstruction of hepatic venous outflow.

Answer 1

Budd-Chiari syndrome is a vascular liver disorder due to obstruction of hepatic venous outflow.

Question 2

Budd-Chiari syndrome is a vascular liver disorder due to obstruction of hepatic … ….

Answer 2

Budd-Chiari syndrome is a vascular liver disorder due to obstruction of hepatic venous outflow.

Question 3

Budd-Chiari syndrome (BCS) describes a classic triad of …

Answer 3

Budd-Chiari syndrome (BCS) describes a classic triad of hepatomegaly, abdominal pain and ascites due to hepatic venous obstruction.

Question 4

Classic triad of hepatomegaly, abdominal pain and ascites due to hepatic venous obstruction - what syndrome?

Answer 4

Budd-chiari

Question 5

Is Budd-chiari syndrome common?

Answer 5

In the general population, BCS occurs at 1 in 100,000 people.

Question 6

The epidemiology of BCS varies depending on geographical location. In non-Asian countries, the condition typically presents in the third or fourth decade and is slightly more common in …. The condition can occur in children and the elderly. BCS is being more frequently diagnosed, which likely reflects the increasing use of imaging.

Answer 6

The epidemiology of BCS varies depending on geographical location. In non-Asian countries, the condition typically presents in the third or fourth decade and is slightly more common in woman. The condition can occur in children and the elderly. BCS is being more frequently diagnosed, which likely reflects the increasing use of imaging.

Question 7

BCS is often used as a broad term to refer to hepatic venous outflow obstruction. It can be divided into primary or secondary:

Answer 7

Primary BCS: obstruction due to a predominantly venous process (e.g. thrombosis, phlebitis)
Secondary BCS: obstruction due to external compression or invasion of the hepatic veins/IVC (e.g. tumour)

Question 8

The majority of conditions leading to Budd-Chiari are associated with a … state that increases the risk of …. Most importantly, myeloproliferative disorders are implicated in up to 50% of cases

Answer 8

The majority of conditions leading to Budd-Chiari are associated with a hypercoagulable state that increases the risk of venous thromboembolism (VTE). Most importantly, myeloproliferative disorders are implicated in up to 50% of cases

Question 9

The majority of conditions leading to Budd-Chiari are associated with a hypercoagulable state that increases the risk of venous thromboembolism (VTE). Most importantly, …. disorders are implicated in up to 50% of cases

Answer 9

The majority of conditions leading to Budd-Chiari are associated with a hypercoagulable state that increases the risk of venous thromboembolism (VTE). Most importantly, myeloproliferative disorders are implicated in up to 50% of cases

Question 10

Causes of Budd-chiari syndrome

Answer 10

Myeloproliferative disorders
Malignancy
Infection and benign liver lesions
Oral contraceptives and pregnancy
Other: hypercoaguable states, membranous webs, connective tissue diseases (e.g. Behçet, lupus)

Question 11

Myeloproliferative disorders
Malignancy
Infection and benign liver lesions
Oral contraceptives and pregnancy
Other: hypercoaguable states, membranous webs, connective tissue diseases (e.g. Behçet, lupus)

All causes of what syndrome?

Answer 11

Budd-chiari

Question 12

The myeloproliferative disorders (MPD) refers to several haematological conditions that are characterised by an … of cells derived from the myeloid cell line in the … …

Answer 12

The myeloproliferative disorders (MPD) refers to several haematological conditions that are characterised by an overproduction of cells derived from the myeloid cell line in the bone marrow.

Question 13

MPD is essentially an umbrella term for several condition, which include (among others):

Answer 13

Polycythaemia ruba vera (PRV): overproduction of erythrocytes
Essential thrombocytosis (ET): overproduction of platelets by megakarocytes
Chronic myeloid leukaemia (CML): one of the chronic leukaemias with overproduction of leucocytes.

Question 14

Malignancy, or cancer, accounts for around 10% of Budd-chiari syndrome cases and may be primary (due to thrombosis) or secondary (due to tumour invasion or compression). … … is most often implicated.

Answer 14

Malignancy, or cancer, accounts for around 10% of BCS cases and may be primary (due to thrombosis) or secondary (due to tumour invasion or compression). Hepatocellular carcinoma is most often implicated.

Question 15

MPD are implicated in up to 50% of cases of BCS, particularly with PRV. The presence of a MPD may be ‘occult’ or ‘covert’ and only identified on bone marrow assessment. Patients are commonly tested for the characteristic … mutation that is found in >80% of patients with PRV as well as other MPD disorders. This mutation renders haematopoietic cells more sensitive to growth factors.

Answer 15

MPD are implicated in up to 50% of cases of BCS, particularly with PRV. The presence of a MPD may be ‘occult’ or ‘covert’ and only identified on bone marrow assessment. Patients are commonly tested for the characteristic JAK2 mutation that is found in >80% of patients with PRV as well as other MPD disorders. This mutation renders haematopoietic cells more sensitive to growth factors.

Question 16

The cause of BCS may be related to contraceptive use or pregnancy in up to …% of cases. This is thought to be due to the increased sex hormone levels in these conditions that promotes a hypercoagulable state.

Answer 16

The cause of BCS may be related to contraceptive use or pregnancy in up to 20% of cases. This is thought to be due to the increased sex hormone levels in these conditions that promotes a hypercoagulable state.

Question 17

Only …% of BCS cases are considered idiopathic (no known cause).

Answer 17

Only 20% of BCS cases are considered idiopathic (no known cause).

Question 18

The severity of BCS depends on the speed of … and time for … formation.

Answer 18

The severity of BCS depends on the speed of occlusion and time for collateral formation.

Question 19

For the clinical spectrum of BCS, occlusion of ≥… hepatic veins is usually required.

Answer 19

For the clinical spectrum of BCS, occlusion of ≥2 hepatic veins is usually required.

Question 20

BCS may lead to acute (fulminant) liver failure or rapid progression of fibrosis with development of cirrhosis. This spectrum of severity is dependent on the speed of occlusion to the hepatic venous flow:

Acute occlusion: patients at risk of acute liver failure that can result in … within 2-3 weeks.
Subacute occlusion: more insidious onset over months compared to acute occlusion. Less severe due to collateral venous formation in portal and hepatic venous systems. At risk of rapid progression of …
Chronic occlusion: development of chronic liver disease with features of portal hypertension. Usually present with complications of … (e.g. ascites, encephalopathy)

Answer 20

Acute occlusion: patients at risk of acute liver failure that can result in death within 2-3 weeks.
Subacute occlusion: more insidious onset over months compared to acute occlusion. Less severe due to collateral venous formation in portal and hepatic venous systems. At risk of rapid progression of fibrosis.
Chronic occlusion: development of chronic liver disease with features of portal hypertension. Usually present with complications of cirrhosis (e.g. ascites, encephalopathy)

Question 21

The clinical features of BCS are highly variable. Up to 15% of patients may be asymptomatic, which is usually due to hepatic venous …. Other patients may present with acute liver failure, characterised by ascites, encephalopathy, jaundice and coagulopathy.

Answer 21

The clinical features of BCS are highly variable. Up to 15% of patients may be asymptomatic, which is usually due to hepatic venous collaterals (e.g. patency of one large remaining hepatic vein). Other patients may present with acute liver failure, characterised by ascites, encephalopathy, jaundice and coagulopathy.

Question 22

Symptoms of budd-chiari syndrome (6)

Answer 22

Abdominal pain
Abdominal swelling (ascites)
Nausea & vomiting
Itching
Leg cramps
GI bleeding: more common if acute presentation with/without liver failure

Question 23

Signs of budd-chiari syndrome

Answer 23

Hepatomegaly
Ascites
Distended abdominal veins (predominant if IVC obstruction)
Peripheral oedema (predominant if IVC obstruction)
Jaundice (usually absent and at worst mild)

Question 24

Features of acute liver failure (5)

Answer 24

Hepatic encephalopathy: confusion, asterixis (flapping tremor)
Bruising (coagulopathy)
Jaundice
Ascites
GI bleeding (e.g. variceal)

Question 25

The diagnosis of BCS is made by demonstrating … venous outflow … on imaging.

Answer 25

The diagnosis of BCS is made by demonstrating hepatic venous outflow obstruction on imaging.

Question 26

The diagnosis of BCS is made using imaging. Options include:

Answer 26

Doppler ultrasound: first-line investigation. Sensitivity >75% in experienced hands.
CT/MRI: used if doppler ultrasound is not available, to confirm the diagnosis following ultrasound or when ultrasound is negative but the suspicion is still high. MRI is more difficult to obtain acutely compared to CT.
Venography: involves transvenous insertion of a catheter via the internal jugular or femoral vein. Contrast is then injected to visualis the hepatic venous system once accessed. May be used if CT/MRI are inconclusive or to plan for therapeutic interventions. Considered the gold-standard.

Question 27

What is considered the gold-standard for diagnosing budd-chiari syndrome?

Answer 27

Venography - involves transvenous insertion of a catheter via the internal jugular or femoral vein. Contrast is then injected to visualis the hepatic venous system once accessed. May be used if CT/MRI are inconclusive or to plan for therapeutic interventions. Considered the gold-standard.

Question 28

Basic investigations for budd-chiari syndrome

Answer 28

Full blood count
Urea & electrolytes
Liver function tests
Bone profile
C-reactive protein
Coagulation

Question 29

Further investigations for budd-chiari syndrome

Answer 29

Non-invasive liver screen: biochemical tests and imaging to assess patients with suspected liver disease. Important to address any additional contributors to liver disease.
Imaging (liver US, CT, MRI): to assess for underlying malignancy or tumour causing extrinsic compression. Critical as part of both diagnosis of BCS and work-up for underlying cause.
Thrombophilia screen: refers to testing for an inherited tendency to develop venous thromboembolism (VTE). Includes testing for deficiency of natural anticoagulants (e.g. antithrombin III, Protein C, Protein S), genetic mutations (e.g. factor V Leiden, prothrombin mutation) and antiphospholipid screen (Lupus anticoagulant, anti-Cardiolipin and anti-β-2-Glycoprotein-1 antibodies).
Haematological screen: assessing for myeloproliferative disorders (e.g. full blood count, blood film, JAK2 mutation +/- bone marrow biopsy) and paroxysmal nocturnal haemoglobinuria.
Liver biopsy: rarely needed in BCS, but may be completed when the diagnosis is uncertain.
Other investigations: guided by the presentation. For example, vasculitis screen if a connective tissue disease is suspected or lower GI endoscopy if inflammatory bowel disease is suspected.

Question 30

A … algorithm to the treatment of BCS is recommended.

Answer 30

A stepwise algorithm to the treatment of BCS is recommended.

Question 31

There are three key areas to management of budd chiari syndrome:

Treat …
Treat ….
Treat …

Answer 31

Treat the underlying obstruction (commonly due to thrombosis): involves four key elements including medical management (e.g. anticoagulation), interventional radiology, transjugular intrahepatic portosystemic shunt (TIPSS) and liver transplantation.
Treat the consequences of portal hypertension (e.g. ascites, varices): typically involves use of diuretics and/or ascitic drainage. Varices are managed with beta blockers or variceal band ligation for primary prophylaxis against bleeding.
Treat the underlying condition (e.g. MPD)

Question 32

Medical management - Budd-Chiari syndrome

Answer 32

Patients with Budd-Chiari syndrome (hepatic vein thrombosis) should receive systemic anticoagulation to reduce clot extension and new thrombotic episodes. The initial anticoagulant of choice is usually low molecular weight heparin (LMWH) that may subsequently be converted to warfarin.

Question 33

In patients with Budd-chiari syndrome, is the presence of varices a contraindication to anti coagulation?

Answer 33

The presence of varices, if adequately controlled, is not a contraindication to anticoagulation.

Question 34

Is interventional radiology used in Budd-chiari syndrome?

Answer 34

Patients may be considered for interventional radiological procedures that include angioplasty (unblocking a vein using balloon dilatation) with/without stenting and/or catheter-directed thrombolysis.

Question 35

Patients with budd-chiari syndrome who fail to respond to medical therapy with anticoagulation and first-line interventional procedures may be considered for …

Answer 35

Patients who fail to respond to medical therapy with anticoagulation and first-line interventional procedures may be considered for TIPSS. TIPSS is another interventional radiology procedure, which is a definitive treatment.

TIPSS involves creation of an artificial channel between the portal inflow and hepatic vein outflow. This channel is known as a shunt and is kept open by placement of a PTFE-covered stent.

Question 36

What patients budd-chiari syndrome may have surgical input?

Answer 36

Patients presenting with severe acute liver failure or those failing to respond to medical and/or radiological therapy may be considered for liver transplantation unless significant contraindications exist. It is important to consider the patients co-morbidities, fitness for surgery and general health before proceeding to transplantation.

Survival with liver transplantation is similar to patients initially treated with TIPSS. Some patients may benefit from direct referral to transplantation rather than undergoing TIPSS, but this is a very specialist area.

Question 37

What is the prognosis for budd-chiari syndrome?

Answer 37

Prognosis has improved with overall survival 75% at 5 years.

Question 38

Acute forms of BCS with acute liver failure is usually fatal without liver transplantation. The use of TIPSS and liver transplantation has improved outcomes with 75% survival at 5 years. Follow-up is important because patients are at risk of developing … … following an episode of BCS.

Answer 38

Acute forms of BCS with acute liver failure is usually fatal without liver transplantation. The use of TIPSS and liver transplantation has improved outcomes with 75% survival at 5 years. Follow-up is important because patients are at risk of developing hepatocellular carcinoma following an episode of BCS.

Question 39

Acute forms of BCS with acute liver failure is usually fatal without …. The use of … and …. … has improved outcomes with 75% survival at 5 years. Follow-up is important because patients are at risk of developing hepatocellular carcinoma following an episode of BCS.

Answer 39

Acute forms of BCS with acute liver failure is usually fatal without liver transplantation. The use of TIPSS and liver transplantation has improved outcomes with 75% survival at 5 years. Follow-up is important because patients are at risk of developing hepatocellular carcinoma following an episode of BCS.

Question 40

Budd–Chiari syndrome - what is it?

Answer 40

Budd–Chiari syndrome is a very rare condition, affecting one in a million adults. The condition is caused by occlusion of the hepatic veins that drain the liver. It presents with the classical triad of abdominal pain, ascites, and liver enlargement.