People living with paroxysmal nocturnal hemoglobinuria (PNH) are more likely to develop a liver condition known as Budd-Chiari syndrome. This disorder blocks blood flow through the liver to the heart, causing several health complications. If you have PNH, it’s important to stick with your treatment plan to avoid developing Budd-Chiari syndrome.

Keep reading to learn more about what Budd-Chiari syndrome is, its symptoms and treatments, and why it develops in those with PNH.

What Is Budd-Chiari Syndrome?

Budd-Chiari syndrome is a rare disorder that affects the veins in your liver, known as the hepatic veins. These veins carry blood away from your liver and back toward your heart. People with Budd-Chiari syndrome have either narrow hepatic veins that become easily blocked or an underlying disease, such as PNH, that makes them more likely to form clots. Since blood can’t flow as easily through narrow or blocked veins, it begins building up in the liver tissue.

Some people have secondary Budd-Chiari syndrome, which develops when you have an issue outside of your liver blood vessels. One common cause is a mass or tumor that presses on your inferior vena cava. This large blood vessel carries blood from your hepatic veins back to your heart.

Types of Budd-Chiari Syndrome

Doctors divide Budd-Chiari syndrome into four types depending on how severe symptoms are and how long they’ve lasted. The classifications include:

• Subacute (the most common type) — Symptoms develop over several months.
• Chronic — Symptoms usually aren’t noticed until cirrhosis (irreversible liver scarring and damage) occurs.
• Acute with liver failure — Symptoms develop within days or weeks, and liver function quickly declines.
• Acute without liver failure — Symptoms develop within days or weeks, but the liver continues working normally.

What Are the Symptoms of Budd-Chiari Syndrome?

People with Budd-Chiari syndrome tend to develop an enlarged liver and spleen. This is because blood clots block blood flow through the liver. The blood and fluid build up in these organs, making them larger.

An enlarged liver and spleen from Budd-Chiari syndrome can cause:

• Abdominal pain, especially in the upper right area
• Jaundice (yellowing of eyes, skin, and tongue)
• Edema (swollen legs)
• Ascites (abdominal swelling due to fluid buildup)
• Gastrointestinal tract bleeding caused by burst blood vessels
• Hepatic encephalopathy (trouble thinking, confusion, and coma from liver disease)
• Extreme tiredness or fatigue
• Liver failure (loss of liver function)

The vast majority of people with the condition will have what’s known as the classical triad of Budd-Chiari syndrome: abdominal pain, ascites, and hepatomegaly (liver enlargement).

Left untreated, Budd-Chiari syndrome can also cause portal hypertension. This refers to high blood pressure in the portal vein, which carries blood from your digestive system to your liver.

Why Does Budd-Chiari Syndrome Develop With PNH?

Paroxysmal nocturnal hemoglobinuria is a rare blood disorder that occurs when your immune system mistakenly attacks your red blood cells. People with PNH don’t make the glycosylphosphatidylinositol (GPI) protein due to a mutation (change) in the PIG-A gene. Red blood cells have GPI on their surface to let the immune system know they belong in the body. Without GPI, a part of the immune system known as the complement system attacks and destroys red blood cells.

PNH causes thrombosis (blood clots) or clumps of blood cells and proteins that form in the blood vessels. These clots can get stuck in veins throughout the body, especially the liver. A blood clot blocking blood flow through the liver can lead to Budd-Chiari syndrome.

Studies show that more than one-third of blood clots in people with PNH affect the liver and inferior vena cava. An older study of 40 people with PNH found that five (12 percent) also had PNH. If you’re living with Budd-Chiari syndrome, your doctor will likely screen you for PNH.

Other Causes of Budd-Chiari Syndrome

In most Budd-Chiari syndrome cases (around 70 percent), doctors can’t pinpoint the underlying cause. Other known causes typically involve red blood cells, such as:

• Rare blood cancers known as myeloproliferative neoplasms, which cause the body to make too many blood cells
• Sickle cell disease, which involves abnormally shaped red blood cells
• Disorders that produce too many blood clots
• Tumors or masses on the liver or kidneys that press on the inferior vena cava or hepatic veins
• Birth control pills or pregnancy, both of which raise the risk of blood clots

How Is Budd-Chiari Syndrome Diagnosed?

If you’re experiencing symptoms of Budd-Chiari syndrome, your doctor will order some tests. Blood tests look for high liver enzymes, which may indicate liver damage. According to Cleveland Clinic, up to half of people with Budd-Chiari syndrome have elevated liver enzyme levels.

Your doctor will also use imaging tests to look for narrowed or blocked veins in your liver or the inferior vena cava. The most common test is Doppler ultrasound, which uses sound waves to look at blood flow through your veins. CT scans and MRI produce detailed images of your entire body and can show enlargement of your liver and spleen, along with ascites.

How Is Budd-Chiari Syndrome Treated?

Treatments for Budd-Chiari syndrome depend on its cause. Options include blood thinners, PNH medications, and medical procedures.

Blood-Thinning Medications

The main treatment for Budd-Chiari syndrome is blood thinners, or anticoagulants. These drugs work by dissolving blood clots that block veins in the liver. Examples include warfarin (Coumadin) and heparin.

Many people with Budd-Chiari syndrome will stay on warfarin for the rest of their lives. You’ll need to see your doctor regularly for blood tests to make sure the medication is working properly. It’s important to note that blood thinners can cause serious or life-threatening bleeding. Be sure to let your doctor know if you notice any abnormal bleeding or aren’t feeling well.

PNH Treatments To Address the Underlying Cause

If your Budd-Chiari syndrome is due to PNH, your doctor may prescribe PNH treatments. Many medications for PNH block complement activation and stop your immune system from attacking your red blood cells. The U.S. Food and Drug Administration (FDA) has approved several treatments for PNH.

Doctors also perform allogeneic stem cell transplants to treat PNH. This treatment replaces a person’s stem cells with healthy ones from a donor. The new stem cells make normal red blood cells that won’t be attacked by the immune system.

Medical Procedures

If there’s too much blood pressure in your liver blood vessels, your doctor can perform a procedure to relieve it. One option involves dilating (widening) the narrowed blood vessel with an inflatable balloon and then placing a stent (tube) to hold the vein open.

Another procedure creates a tiny tunnel that connects the portal vein to a hepatic vein and allows blood to drain into the hepatic vein, relieving pressure. This procedure is commonly known as transjugular intrahepatic portosystemic shunt (TIPS).

In severe cases of Budd-Chiari syndrome, you may need a liver transplant. Your doctor may recommend a transplant if medications and procedures haven’t helped. People with cirrhosis and liver failure also need a transplant. This is because complications of Budd-Chiari syndrome can cause permanent liver damage that can’t be reversed with treatment.

How Does Budd-Chiari Syndrome Affect Outlook With PNH?

If you’re living with both PNH and Budd-Chiari syndrome, it’s important to work closely with your health care team. Sticking with your treatment plan lowers your risk of blood clots and improves your quality of life.

Researchers have studied how Budd-Chiari syndrome affects the prognosis (outlook) for people with PNH. One report found that people with both conditions are more likely to develop vein thrombosis than those with only Budd-Chiari syndrome. Fortunately, the authors also found no difference in how long people survived between the groups. This means that having Budd-Chiari syndrome with PNH likely won’t affect your outlook.

Talk With Others Who Understand

On myPNHteam, the social network for people with paroxysmal nocturnal hemoglobinuria and their loved ones, members come together to ask questions, give advice, and share their stories with others who understand life with PNH.

Are you living with paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome? What symptoms did you experience? What’s your treatment plan? Share your experience in the comments below, or start a conversation by posting on your Activites page.