Biliary atresia: Symptoms, diagnosis, and treatment of the congenital liver condition

February 2, 2024

Natasha Corbitt, M.D., Ph.D. Surgery

Newborn with jaundice. — Jaundice is often the first sign of biliary atresia, though it’s often not diagnosed until the baby’s 2-month checkup, after liver damage has already occurred.

Everything about a newborn is tiny, from their toes to their noses, which makes them very cute. But it can also create significant challenges if they are diagnosed with a complex health condition such as biliary atresia.

The bile ducts, a series of thin tubes that carry essential digestive fluid from the liver to the small intestine, are just 1 mm wide in a newborn. That’s thinner than a piece of spaghetti.

When the tubes are blocked or damaged, bile builds up in the liver and causes inflammation and tissue damage that, without treatment, typically leads to liver failure by age 2.

Though uncommon, biliary atresia is the most frequent reason for liver transplants in children. In the U.S., 400-500 newborns are diagnosed with biliary atresia each year, oftentimes in babies that are premature, female, and non-Caucasian.

Though the first sign of biliary atresia often is jaundice, a yellowing of the skin, jaundice is also common in otherwise healthy newborns. Diagnostic surgery is the most definitive way to identify biliary atresia. However, by the time biliary atresia is suspected, damage may have already been done to the liver – and it’s a race against the clock to treat the condition with a specialized procedure.

Children’s Health, in partnership with the UT Southwestern Pediatric Group, is offering the first dedicated biliary atresia program in North Texas. We are a high-volume treatment center, and UT Southwestern is a research leader in efforts to identify potential causes for the condition and simplify diagnosing it, potentially preventing pediatric liver damage.

With specialized care, 80% to 90% of babies with biliary atresia will survive to adulthood. The earlier we can diagnose and treat the condition, the better the chances a baby will not need a transplant later in life.

What causes biliary atresia?

Though a single cause for biliary atresia hasn’t been identified, our research suggests different types of biliary atresia have varied causes. Biliary atresia is usually an affected baby’s only congenital condition, but about 16% of newborns with biliary atresia also have complications of the heart, spleen, or intestines, suggesting a potential genetic cause for the disease. For the syndromic type of biliary atresia, where infants have biliary atresia and these other conditions, genetics plays a huge role. My team and I were the first to demonstrate this possibility in mouse models, and our research is currently under scientific review.

UTSW is among the first pediatric surgical teams to study diseased bile duct tissue in biliary atresia patients using transcriptomics – the study of thousands of genes– to determine potential genetic causes of blockages and other conditions that may be associated with the disease. For example, abnormal organ positioning is associated with biliary atresia. In this condition, some organs develop on the wrong side of the body – the liver grows on the left side of the abdomen when it should be on the right, or the intestines are misarranged.

Ongoing research around the world has suggested other potential causes of biliary atresia, such as in utero viral infections, environmental chemical exposure, immune system malfunction, and developmental problems during pregnancy.

Early and serious liver complications

A blocked bile duct causes fibrosis, which is inflammation of the liver that can progress to cirrhosis. That's when scar tissue permanently overtakes healthy liver tissue, blocking blood flow through the organ. Cirrhosis progresses in weeks to months in infants with biliary atresia, compared to years in adults with alcoholic and nonalcoholic liver disease.

Worsening cirrhosis can cause portal hypertension, which is high blood pressure in the vessels that carry blood into the liver from the intestines. Blood gets backed up and causes vessels to enlarge, creating potentially fatal bleeding in the digestive tract and the potential for fluid to build up in the abdomen.

Cirrhosis ultimately leads to liver failure and the need for a transplant.

Dr. Natasha Corbitt: 'Giving babies a fighting chance'

Natasha Corbitt, M.D., Ph.D., is a physician-scientist and a trailblazer. As the country's first Black female pediatric surgeon to also hold a Ph.D., she has focused her research and clinical efforts on understanding and treating a rare pediatric liver condition, biliary atresia.

Learn more

Sooner, simpler diagnosis

Jaundice that doesn’t clear up within the first few weeks of life is often the first sign of biliary atresia. A yellow hue tints the baby’s skin and eyes, and the baby may become irritable. Their urine may be dark-colored and stools may be a pale yellow, white, or gray, indicating no bile is leaving their body.

In infants younger than 2 months, we may start with blood and liver enzyme tests and ultrasound scans to rule out some of the 36 known conditions, such as cystic fibrosis and lipid metabolism disease, that can cause persistent jaundice. Every day without treatment risks further damage to the liver, so in babies over 30 days old, we may go straight to a cholangiogram, a diagnostic surgery that involves making an incision in the baby’s abdomen to examine the liver and the bile tree, which are the ducts outside of and attached to the liver.

Earlier, simpler detection means faster treatment to limit liver damage and avoid a transplant later in life. UT Southwestern is pioneering methods to make biliary atresia diagnosis less invasive:

In our method, we inject dye into the baby’s gallbladder through millimeter-sized incisions and X-rays show us pictures of the small ducts – without having to open the baby’s abdomen.
We are investigating the use of the fluorescent dye indocyanine green, which is given through an IV, taken up by the liver, and travels through the bile duct to be excreted in the baby’s stool. We can see the fluorescent dye light up on a special camera; if it is not present in the stool, we know the ducts are blocked.
A blood test developed by an international group led by Jorge Bezerra, M.D., Pediatric Hepatologist and Pediatrician-in-Chief at Children's Health and Professor and Chair at UT Southwestern, may also reduce the need for a cholangiogram and shorten time to treatment. The test screens for matrix metalloproteinase-7 (MMP-7), high levels of which signal a strong suspicion for biliary atresia.

Biliary atresia is the only condition that completely blocks the ducts, so if the bile cannot flow from the liver to the intestine, we can confirm the diagnosis and plan surgical treatment. Our biliary atresia experts work closely with neonatologists, pediatricians, pediatric hepatologists, and pediatric surgeons to fast-track surgery for babies to prevent further liver damage.

Team-based biliary atresia treatment

Surgery

The most common surgical approach to treating biliary atresia is called Kasai portoenterostomy, and it is most effective when done within the first few weeks of a baby’s life. In this procedure, the surgeon removes scar tissue from outside the liver, along with damaged bile ducts and the gallbladder. Then we make a connection directly between the portal plate of the liver (that has tiny bile ductules) and the small intestine, so bile can drain from the liver.

diagram of liver and bile ducts — The bile ducts carry essential digestive fluid from the liver to the small intestine and are just 1 mm wide in a newborn. (Photo credit: NIH)

Kasai surgery is deemed successful if bile starts flowing properly after three months and persistent jaundice resolves. Without successful surgery, babies will need a liver transplant to survive. Kasai is not a perfect solution – it can slow the progression of liver damage but half of babies who undergo the procedure still need a liver transplant by adulthood.

After surgery, babies need long-term follow-up care to track their bile flow and liver function. UTSW and Children’s Health biliary atresia and liver disease experts collaborate to make sure you understand how to care for your baby and support them as they grow.

Nutrition

Babies with biliary atresia will have to follow special dietary guidelines throughout their lives. Bile helps the body absorb fats, and even after a successful Kasai procedure, they may have reduced bile flow and liver damage that makes it tough for the body to get nutrients from food and remove fatty waste.

UTSW and Children’s Health co-manage one of the largest pediatric nutrition teams in Texas, developing specialized nutrition plans for each patient. Supplementation of fat-soluble vitamins is key, particularly:

Vitamin D to help the body absorb calcium
Vitamin K, which aids in wound healing and blood clotting
Vitamin A to assist with growth and development

Vitamin deficiencies and malnutrition can inhibit growth and put children at higher risk of bone fractures. These babies also tend to have a faster metabolism, which means they need to eat more calories to thrive but may also have a reduced appetite. Some babies will need to supplement with calorie-rich formula or medium-chain triglyceride (MCT), a nutritional oil that is easier to digest than other fats with reduced bile. Others may do better on a nasogastric (NG) tube, which is placed in the nostril and extends through the throat to the stomach, where it deposits high-calorie liquid nutrition.

From infancy through adulthood, patients will need regular follow-up care from a liver specialist and a dietitian to stay ahead of nutritional deficiencies and potential liver complications.

Potential callout: Register to become an organ donor.

What if your baby needs a liver transplant?

More than half of babies with biliary atresia will need a liver transplant in their lifetime. UTSW and Children’s Health offer the only pediatric liver transplant program in North Texas, and it is one of the highest-volume transplant centers in the U.S. UTSW has performed more liver transplants than any other medical center in North Texas for three years in a row, and we offer telemedicine for follow-up care, as well as satellite clinics in Lubbock, El Paso, and Fort Worth.

As you prepare for your child’s surgery, we will connect you with a patient navigator to help set up appointments and coordinate follow-up visits. See these additional resources for information about the procedure, recovery, and life after having a liver transplant:

American Liver Foundation
Children’s Liver Disease Foundation
Children’s Liver Association for Support Services
Texas Liver Foundation, which was co-founded by Thomas Kerr, M.D., Associate Professor in the Department of Internal Medicine at UT Southwestern, specializing in liver disease and liver transplantation

If your child has persistent jaundice, talk with their pediatrician or a liver specialist about testing for biliary atresia. The sooner we diagnose the condition, the better. Giving babies with this congenital condition exceptional liver care earlier in life – through advanced research and continually refined surgery – is our team’s passion and mission.

To refer a patient or talk with a biliary atresia specialist, call 214-645-8300 or request an appointment online.