Biliary Atresia

Biliary Atresia

Overview

Biliary atresia is a condition in which your baby’s bile ducts are blocked and can’t send bile from their liver to their small intestine. Bile is a substance your baby’s liver produces that carries waste products to their intestines. Bile also helps your baby’s intestines digest and absorb vital nutrients. Biliary atresia affects babies in their first few months of life and can quickly lead to severe liver damage without prompt treatment.

A slowdown or stalling of bile flow (cholestasis) affects your baby’s liver and all the organs and tissues surrounding it. Bile clogs up in your baby’s liver and causes scarring that can prevent their liver from working normally. Also, their intestines can’t receive the bile needed to break down nutrients and support their growth.

Biliary atresia is a serious condition, but surgery can create a new path for bile to flow from your baby’s liver. This relieves symptoms and helps with digestion. However, due to liver damage, many babies with this condition ultimately need liver transplantation. The good news is that, thanks to medical advances, babies with biliary atresia often go on to enjoy a long and healthy life.

Symptoms

The first signs of biliary atresia usually appear a few weeks after birth and include:

Jaundice (yellow-colored skin or white parts of the eyes).

Pale poop.

Dark or amber-colored pee.

Later signs and symptoms of biliary atresia

These symptoms may develop by the time your baby is 6 to 10 weeks old:

Itchy skin.

Irritability.

Trouble gaining weight (failure to thrive) as nutrients aren’t getting absorbed.

Swollen belly due to fluid buildup.

When to worry about jaundice

The most obvious sign of biliary atresia is that your baby’s skin and the white parts of their eyes will appear yellow (jaundice). Jaundice is common in newborns and usually goes away after a week or two. But certain conditions like biliary atresia cause jaundice that lasts longer.

If your baby has jaundice beyond two weeks after birth, it’s important to take them to see a healthcare provider right away. It could be a sign of biliary atresia or another condition that needs treatment.

Biliary atresia poop

Babies with biliary atresia have poop that’s light beige or pale in color. Healthcare providers call these, “acholic stools.” The poop is too light because bile can’t reach their intestines. Bile gives poop its normal color, which is typically yellow, brown or green. Call your baby’s provider if you think your baby’s poop isn’t a normal color.

Causes

Researchers don’t fully understand why this condition occurs and continue to look into possible causes. Some theories suggest somatic genetic mutations may lead to abnormal development of fetal bile ducts. Somatic mutations are those that occur after conception and therefore aren’t passed down by one’s biological parents.

It can be frustrating to hear there’s no clear cause of your baby’s condition. But ongoing research may shed more light on the causes in the coming years.

Complications

Without treatment, biliary atresia can lead to:

Permanent scarring in your baby’s liver (cirrhosis).

Raised blood pressure in the veins that send blood from your baby’s intestines to their liver (portal hypertension).

Fluid buildup in your baby’s belly that causes it to swell (ascites).

An enlarged liver (hepatomegaly).

Swollen veins in the lining of your baby’s esophagus (esophageal varices). These can cause life-threatening internal bleeding.

These complications can lead to liver failure, which can be fatal. But there’s reason for hope. Spotting signs and symptoms early and taking your baby to get checked can lead to a diagnosis and life-saving treatment.

Diagnosis

Healthcare providers diagnose biliary atresia through a physical exam and tests. If your baby has light-colored poop and/or jaundice that lasts longer than two weeks, take them for a checkup. Your baby’s provider will:

Look for signs of biliary atresia, including jaundice and a swollen belly.

Take a blood sample to check how well your baby’s liver is working and look for causes of jaundice.

Take a pee sample to look for causes of jaundice.

Order additional tests as needed.

Tests to diagnose biliary atresia

Your baby may need further tests to show how their bile ducts, liver and gall bladder are working. Possible tests include:

Ultrasound of your baby’s belly.

HIDA scan (hepatobiliary iminodiacetic acid scan).

Liver biopsy.

Your baby’s provider may also order additional tests to rule out conditions that have similar symptoms, such as Alagille syndrome. These tests may include genetic tests and newer inflammatory markers like MMP7.

Intraoperative cholangiogram

This test is different than those listed above because healthcare providers often combine it with treatment.

A provider injects contrast dye into your baby’s gallbladder to provide detailed X-ray images of their bile ducts. How the dye moves or fails to move toward your baby’s small intestine shows the structure of their bile ducts and reveals blockages.

If the test confirms biliary atresia, surgeons can immediately begin addressing the problem. They create a new path for bile to flow out of your baby’s liver. This is called the Kasai procedure, and it’s typically the first treatment healthcare providers use to treat biliary atresia.

Treatment

Healthcare providers can’t cure biliary atresia. But they can perform a surgery called the Kasai procedure that helps bile flow from your baby’s liver to their small intestine.

During the Kasai procedure, a surgeon removes blocked bile ducts. Then, they use part of your baby’s small intestine to create a new path for bile to flow out of their liver. This relieves the blockage and allows bile to flow normally again.

Soon after the Kasai procedure, your baby’s symptoms (like jaundice and abnormal poop color) will likely go away. Your baby’s intestines will be able to absorb nutrients more efficiently, which will support their growth.

However, this procedure usually isn’t a lifelong fix. Biliary atresia often causes damage to a baby’s liver that may slowly get worse. Many babies who have the Kasai procedure need a liver transplant sometime during childhood or their teenage years. Some need it sooner (before age 2) if bile blockages continue after the Kasai procedure.

Type of Doctor Department : Pediatric Gastroenterologists, Pediatric Hepatologists, or Pediatric surgeons