Budd-Chiari syndrome: blocked liver veins, symptoms, tests and treatment

Blood from the abdominal organs reaches the liver through the portal vein, and after passing through the liver it leaves through the hepatic veins, which drain into the inferior vena cava, a large vein that carries blood back to the heart. Liver UK describes Budd-Chiari syndrome as a rare condition where blood cannot flow out of the liver normally. A UK clinical reference defines it as a disorder caused by hepatic venous outflow obstruction.

When the outflow is blocked, blood backs up inside the liver, pressure in the portal vein rises (portal hypertension) and fluid collects in the abdomen. Liver UK's page for children explains that this can make the spleen larger, cause swollen veins in the food pipe and stomach (varices) that can bleed, and over time lead to scarring (fibrosis) and cirrhosis of the liver.

The clinical reference notes that it generally requires more than one hepatic vein to be obstructed for symptoms to be present, and that the presentation is so varied that the diagnosis should be considered in anyone with acute or chronic liver disease.

The blockage is usually a blood clot (thrombosis) or, less often, a web or membrane within the vein. The clinical reference groups the causes. Haematological causes include polycythaemia vera and other myeloproliferative disorders, thrombophilic conditions such as protein C, protein S or antithrombin deficiency or factor V Leiden, antiphospholipid syndrome, essential thrombocytosis and paroxysmal nocturnal haemoglobinuria. Other causes are pregnancy and the period after birth, combined oral contraceptives and hormone replacement therapy, chronic inflammatory conditions such as inflammatory bowel disease, lupus and Behçet's disease, malignancy including liver and kidney cancers, trauma and surgery.

The same reference says hepatic vein thrombosis and myeloproliferative disease are the commonest causes in the West and lists idiopathic (no cause found) at 30%, while adding that the cause can now be found in 90% of cases with the help of gene mutation testing. Liver UK says that around 3 out of 4 children with the condition have an underlying blood condition in which blood clots too easily. Finding the underlying cause matters because it changes treatment and follow-up.

The clinical reference says Budd-Chiari typically presents with abdominal pain, jaundice and ascites without frank liver failure, but can evolve rapidly to acute liver failure. Sudden onset brings right upper abdominal pain and rapidly developing ascites, an enlarged liver, jaundice and acute kidney injury. Most commonly it presents gradually with ascites, and jaundice is commonly absent.

Liver UK's information for children, which describes the same condition, lists the signs and symptoms below. Some people have no symptoms and the condition is found by accident when they are being tested for something else. The NHS notes more generally that most types of liver disease do not cause symptoms in the early stages, and that symptoms of cirrhosis include feeling very tired and weak, loss of appetite, jaundice, itchy skin and feeling or being sick.

• Abdominal (tummy) pain and an enlarged liver.

• Fluid in the tummy (ascites), with a swollen abdomen and visible veins on the tummy wall.

• An enlarged spleen.

• Tiredness, itching, feeling or being sick.

• Yellowing of the skin and whites of the eyes (jaundice).

• Swelling of the legs and ankles.

• Black, tarry stools or vomiting blood, which Liver UK says need urgent medical attention.

Vomiting blood or passing black, tarry stools may signal bleeding from varices. The NHS says to call 999 or go to A&E if you are vomiting blood and feel generally unwell, confused, faint or dizzy, have rapid or shallow breathing, cold, clammy, pale skin, tummy pain or black poo. If you have stopped vomiting blood and have no other symptoms, ask for an urgent GP appointment or call 111.

Confusion, forgetfulness and mood changes can be signs of hepatic encephalopathy, a complication of severe portal hypertension that Liver UK describes. They need prompt medical assessment.

Liver UK says it can be hard to diagnose because the symptoms resemble other liver conditions, so doctors rule these out first and then find where blood flow is blocked. Tests include a physical examination, liver blood tests, tests for clotting problems, abdominal ultrasound, CT, MRI, endoscopy if portal hypertension is suspected, hepatic vein catheterisation, angiography or venography and sometimes a liver biopsy, some of which are used only if the diagnosis remains uncertain.

The clinical reference says Doppler ultrasound can show hepatic vein or caval thrombosis, that MRI is more sensitive than CT and may show an enlarged caudate lobe, that caval venography excludes webs and occluded veins, and that liver biopsy often shows congestion. Liver function tests may be only mildly raised. Samples of ascitic fluid may be taken, weighing risks and benefits.

Liver UK says there is no cure, and that the aim is to keep liver function stable by helping blood flow out of the liver, stopping clots forming or growing, reducing the build-up of blood in the liver and managing complications. The clinical reference describes a stepwise approach that treats any underlying cause, with anticoagulation for all patients.

The clinical reference says that without treatment 90% of patients die within three years, mostly of the complications of cirrhosis, but that modern imaging and treatment have had a major effect, with five-year survival as high as 90% in treated patients. Good prognostic factors include younger age at diagnosis, little or no ascites and low serum creatinine. These are group figures from clinical reference material and cannot predict one person's course.

Liver UK's page on living with Budd-Chiari says the diagnosis can be worrying and frightening, but that getting a diagnosis lets you find out about treatment options, which can reduce the risk of the disease getting worse and improve quality of life. It suggests a low-salt diet to help with fluid in the abdomen and a referral to an NHS dietitian if eating is difficult, careful hygiene and recommended vaccinations because serious liver disease increases the risk from common infections, and support with fatigue.

On the NHS the route normally runs from a GP or emergency department to a gastroenterology or hepatology team and then, because the condition is so rare, to a specialist liver centre that can provide interventional radiology, TIPS and transplant assessment. Some people also seek a private specialist opinion for a second view or quicker imaging. The diagnostic tests and treatments are the same, and anticoagulant monitoring, blood tests and imaging follow-up need a clear owner whichever route you choose.