What is Budd-Chiari Syndrome?
Budd-Chiari syndrome, or BCS, is a rare disease that causes a blockage in the veins that carry blood away from the liver. This blockage can occur anywhere in these veins and is not related to heart disease, pericardial (the sac that surrounds the heart) disease, or a condition called sinusoidal obstruction syndrome, which can also cause a similar blockage. There are two types of Budd-Chiari syndrome named after their causes. Primary Budd-Chiari syndrome occurs due to a problem with the veins themselves, like a blood clot or inflammation of the vein. On the other hand, secondary Budd-Chiari syndrome is caused by something outside of the veins – such as a tumor – pressing against or invading the veins and the large vein that carries blood from the lower part of your body to your heart, known as the inferior vena cava.
What Causes Budd-Chiari Syndrome?
Budd-Chiari syndrome develops due to an underlying cause in about 80% of cases. In majority of these cases, it is connected to a state called ‘hypercoagulability’ where the blood is more prone to clotting. This information is crucial when diagnosing and treating the syndrome.
There are various key causes of Budd-Chiari syndrome and they include:
– Blood Disorders
Almost half of Budd-Chiari syndrome cases are linked to specific types of blood disorders, referred to as ‘myeloproliferative disorders’. These include diseases like polycythemia vera and essential thrombocythemia, which typically go hand in hand with hypercoagulability.
– Cancer
About 10% of Budd-Chiari syndrome cases have a connection to cancer. The cancer can either directly squeeze or invade blood vessels. This, together with hypercoagulability, leads to blood clot formation and blockage. The most common cancer linked to Budd-Chiari syndrome is liver cancer, but it is also associated with adrenal gland, kidney, leiomyosarcoma, right atrial myxoma, and Wilms tumors.
– Liver Lesions
On occasion, an infection or a growing mass in the liver can cause blood vessels to be squeezed. Various types of liver cysts, adenomas, and invasive aspergillosis, as well as aortic aneurysms, are common irregular growths causing Budd-Chiari syndrome.
– Pregnancy and Oral Contraceptives
Oral contraceptives and pregnancy, both of which can cause hypercoagulability, account for around 20% of Budd-Chiari syndrome cases.
– Unknown Causes
For about 20% of the cases, the cause remains unknown.
Budd-Chiari syndrome can also be due to other conditions that make the blood more likely to clot. These include Factor V (Leiden) mutation causing resistance to protein C, antiphospholipid antibody syndrome, antithrombin deficiency, protein C deficiency, and a condition known as paroxysmal nocturnal hemoglobinuria.
Risk Factors and Frequency for Budd-Chiari Syndrome
Budd-Chiari syndrome is usually diagnosed in people in their 30s or 40s in non-Asian countries, and it happens mainly in women. The primary cause is usually a blockage in the liver veins. However, in Asian countries, this condition is more often seen in men. The main cause there is typically a blockage in the inferior vena cava (a large vein that carries deoxygenated blood from the lower and middle body into the heart), or a combination of blockages in the inferior vena cava and the liver veins.
Signs and Symptoms of Budd-Chiari Syndrome
Budd-Chiari syndrome (BCS) is a liver condition that can appear suddenly or develop slowly over time. The speed and severity of the disease often categorize it into acute, subacute, or chronic stages:
- Acute: Symptoms appear quickly over a few weeks and include severe abdominal swelling (ascites) and liver tissue death (hepatic necrosis). In this stage, no venous collaterals (alternative blood pathways) are seen.
- Subacute: Symptoms begin subtly and can take up to three months to fully develop. Venous collaterals form, leading to minimal ascites and hepatic necrosis.
- Chronic: At this stage, patients exhibit complications similar to liver cirrhosis, and venous collaterals are present.
In severe cases, BCS can lead to sudden liver failure, characterized by a rapid onset of liver damage, yellowing of the skin and eyes (jaundice), elevated liver enzyme levels (transaminases), prolonged blood clotting time (prothrombin time/international normalized ratio or PT/INR), and mental confusion or altered consciousness due to liver disease (hepatic encephalopathy).
The primary symptoms of Budd-Chiari syndrome include abdominal pain, ascites, and enlarged liver (hepatomegaly). However, as these symptoms can be quite common and the disease can present in various ways, a high level of suspicion is needed for doctors to diagnose this condition.
Depending on how BCS develops, symptoms can vary:
- Acute and subacute stages: Abrupt onset of ascites, abdominal pain, jaundice, hepatomegaly, kidney failure (renal failure), and hepatic encephalopathy.
- Chronic stage (most common): Gradual ascites and absence of jaundice. Half of the patients can show signs of renal impairment.
- Rare cases: Tender hepatomegaly, rapid or severe liver failure (fulminant/sub-fulminant hepatic failure), jaundice, and renal failure.
During a physical examination, the doctor may notice the following:
- Jaundice
- Ascites
- Hepatomegaly
- Enlarged spleen (splenomegaly)
- Swelling of the lower legs (pedal edema)
- Formation of ulcers due to blood pooling in the legs (stasis ulcerations)
Budd-Chiari syndrome is typically suspected when the following signs are observed:
- Quick onset of ascites and painful hepatomegaly
- Large ascites but normal liver function
- Dilation of blood vessels in the liver (sinusoidal dilation) in liver biopsy without corresponding heart disease
- Rapid liver failure along with hepatomegaly and ascites
- Unexplained chronic liver disease
- Liver disease accompanied by a disorder causing blood clots (thrombogenic disorder).
Testing for Budd-Chiari Syndrome
Budd-Chiari syndrome doesn’t have a single test that can definitively diagnose it. Instead, doctors rely on certain typical symptoms and conditions that could lead to blood clot formation, such as cancer.
Doppler ultrasonography, which uses sound waves to create pictures of the blood flowing through your vessels, is the first test most doctors will use. It can usually confirm if you have Budd-Chiari syndrome. However, if this is not possible or if the results aren’t clear, other scans like a CT scan or an MRI might be used. If these also don’t provide a clear diagnosis but doctors still suspect you have the syndrome, a type of X-ray called venography could be used.
In some cases, a procedure called diagnostic paracentesis might be done. In this test, a needle is used to take a small sample of fluid from your abdomen. The protein levels and the number of white blood cells in this fluid can help doctors understand whether you have the chronic form of Budd-Chiari syndrome.
Blood tests might also be carried out, but they’re not very specific. They might show a mild increase in certain liver enzymes and alkaline phosphatase levels in some patients.
Thorough imaging of the liver and associated blood vessels is very important in diagnosing Budd-Chiari syndrome. Advanced ultrasound techniques can detect blood clots and other changes in the liver with about 85% to 90% accuracy. For example, ultrasound may show clots and webs in the blood vessel that carries blood away from the liver, a smaller than normal vein, blood clots in the liver, a larger than normal portion of the liver, fluid in the abdomen, abnormal pathways for blood flow, and unusual patterns or rates of blood flow in the liver.
A CT scan could be useful if doctors suspect a physical blockage as the underlying cause, while MRI is becoming increasingly popular due to its high sensitivity and specificity. Venography provides a very clear image of any obstructions, but because it’s invasive, meaning it involves inserting instruments into your body, it’s not used as frequently.
Finally, while a liver biopsy, where a small piece of the liver is removed and examined under a microscope, can be used to diagnose this syndrome, it’s usually avoided as there are less invasive methods available.
Treatment Options for Budd-Chiari Syndrome
The treatment for Budd-Chiari syndrome, a disorder that affects the blood flow in the liver, is designed to fix the blockage, stop the clot from growing, reduce further damage to the liver, and handle any associated complications.
The targets for treating this condition include:
– Unblocking the affected area,
– Addressing any contributing health problems,
– Keeping an eye on any worsening liver damage.
In terms of specific remedies:
– Blood-thinning medications called anticoagulants are typically the first line of treatment. They begin with a drug known as low-molecular-weight heparin and then switch to a lifelong course of another drug, warfarin. Patients on warfarin need to have their blood clotting times (PT/INR) regularly watched to make sure they’re in the desired range.
– Other potential treatments involve using medicines to dissolve clots (thrombolysis), inserting a stent to keep the blood vessel open, or creating a new pathway for blood to flow in the liver (transjugular intrahepatic portosystemic shunt). These are usually considered for severe cases of Budd-Chiari syndrome that don’t respond to initial treatment.
– For acute cases that don’t improve with other treatments, surgery to relieve the pressure in the liver (decompression) may be considered.
Lastly, if all other treatments fail or if the patient develops a condition known as decompensated cirrhosis where the liver is severely damaged, a liver transplant may be an option. Based on two studies, the survival rate ten years after a liver transplant ranges from 69% to 84%.
What else can Budd-Chiari Syndrome be?
When diagnosing Budd Chiari syndrome, a condition affecting blood flow in the liver, doctors need to rule out several other conditions that share similar symptoms. Some of these conditions include:
- Right-sided heart failure
- Disease spreading to the liver from other parts of the body (metastatic liver disease)
- Liver disease caused by alcohol abuse (alcoholic liver disease)
- Liver disease caused by inflammation clusters (granulomatous liver disease)
- A congenital condition leading to a lack of a specific protein (alpha-1 antitrypsin deficiency)
- Viral liver inflammation (infectious hepatitis)
- Fitz-Hugh Curtis syndrome, a complication of pelvic inflammatory disease
- Heart failure resulting in fluid build-up (congestive heart failure)
- Niemann-Pick disease type C, a disorder affecting the body’s ability to breakdown fats
- Excessive iron buildup in a newborn (neonatal hemochromatosis)
- A malformation of the bile ducts (biliary atresia)
- A hereditary disorder causing liver fibrosis (congenital hepatic fibrosis)
- Cystic fibrosis, a disorder affecting the lungs and digestive system
- Inborn defects of metabolism, conditions causing difficulties in breaking down food and producing energy
- Excessive iron accumulation in the body (hemochromatosis)
- Liver inflammation caused by certain medications (drug-induced hepatitis)
To ensure an accurate diagnosis, it’s vital for a healthcare professional to consider all these possible conditions and perform the necessary tests.
What to expect with Budd-Chiari Syndrome
For Budd-Chiari syndrome, certain factors can predict a better outcome. These include being younger in age, having a low Child-Pugh score (a measure of liver function), low levels of creatinine in the blood (a marker of kidney function), and not having excess fluid in the abdomen (ascites).
On the other hand, factors that can signal a poorer outcome include blockage of all three main liver veins and/or the main vein in the liver (portal vein), presence of ascites, being older when originally diagnosed, having a high Child-Pugh score, and already having a chronic disease when diagnosed with Budd-Chiari syndrome.
Possible Complications When Diagnosed with Budd-Chiari Syndrome
Budd-Chiari syndrome can lead to many complications. Mostly, these complications are related to the conditions that caused it and how much the liver has failed as a result.
If Budd-Chiari syndrome is not treated, it can result in:
- A condition called hepatic encephalopathy that affects brain function because of liver failure
- Variceal hemorrhage, which is severe bleeding in the esophagus or stomach
- Hepatorenal syndrome, a serious condition affecting the kidney due to liver disease
- Portal hypertension, known as high blood pressure in the liver’s blood vessels
- Bacterial peritonitis in presence of ascites, an infection in the abdomen’s lining due to fluid build-up
- Hepatocellular carcinoma, a type of liver cancer
Preventing Budd-Chiari Syndrome
It’s crucial that patients, especially those at greater risk, are educated about the potential of facing this condition. Basic understanding of symptoms linked to liver problems should be provided for everyone. If patients start to show these symptoms, it’s important they reach out to a medical professional for advice. It’s equally significant for patients to have regular check-ins with their healthcare teams, as this can support in tracking their health condition.