Biliary atresia symptoms

Last updated April 25, 2024, by Lindsey Shapiro, PhD
Fact-checked by Marta Figueiredo, PhD

Hallmark biliary atresia symptoms — signs of biliary atresia, a rare and potentially life-threatening liver disease in infants — include color changes in the skin, urine, and stool.

The disease’s characteristic blockage in the ducts that normally carry bile, a digestive fluid that helps break down fats, from the liver to the intestines prevents bile from reaching the digestive tract. This also causes biliary atresia symptoms such as nutritional problems and growth delay.

Over time, bile duct blockage and impaired bile flow, or cholestasis, leads to toxic accumulation of bile in the liver, which can result in irreversible liver damage and liver failure.

The exact causes of biliary atresia are not known and it can’t be predicted ahead of time whether a baby will have the disease. Early identification of biliary atresia signs and symptoms in a newborn is critical for promptly reaching a diagnosis, and treating the condition before serious liver damage or life-threatening complications occur.

Early signs and symptoms

The earliest symptoms of biliary atresia are jaundice, typically seen as a yellow color or tint in the skin and the whites of the eyes, dark urine, and pale stools. Such signs are first observed in infancy, typically emerging within the first two months of life.

All three of these biliary atresia symptoms occur due to the abnormal accumulation of bilirubin in the bloodstream. This is a yellow-reddish waste product that’s normally disposed of by the liver, which incorporates it into bile to be eliminated through feces.

In biliary atresia, however, the stalling or slowing of bile flow causes bilirubin to accumulate in the bloodstream, leading to its main symptoms:

• With jaundice, the high blood levels of bilirubin can lead to its accumulation in the skin and whites of the eyes, making them look yellowish.
• Dark urine is caused by bilirubin in the blood making its way to the kidneys because it can’t be excreted through the intestines. Instead, it is excreted in the urine, but this causes pee to take on a darker color, such as dark brown or tea-colored.
• Pale stools are seen for babies with the condition, due to a lack of bilirubin in their poop. Such stools, which may be very pale, in shades of gray, white, or clay, contrast with the yellow-, brown-, or green-colored poop typically seen with infants.

There are two main types of biliary atresia, based on when these early symptoms emerge. In the most common type, perinatal biliary atresia, babies might appear healthy at birth, but symptoms develop over the first few weeks as the bile ducts become obstructed.

Less commonly, in about 10%-20% of cases, bile duct abnormalities begin in the womb and symptoms of biliary atresia are seen immediately at birth. Known as fetal biliary atresia, this type of disease is sometimes also accompanied by developmental problems in other organs such as the heart, spleen, or intestines. Those other problems will be evident in the newborn.

The different types of jaundice

Bilirubin is produced when old or damaged red blood cells are broken down. One of the liver’s jobs is to metabolize bilirubin and conjugate it, or bind it to molecules that make it more soluble in bile. This helps bilirubin to travel via bile to be excreted into the intestines.

When there is too much bilirubin produced or it can’t be properly processed and excreted, the yellowish substance backs up in the bloodstream and causes a yellowing of the eyes and skin, or jaundice.

Importantly, nearly all newborn babies experience physiological jaundice, a form that is temporary and not caused by an underlying disease.

Newborn jaundice, also called infant jaundice, can occur due to the greater production and faster breakdown of red blood cells in the first week of life. The resulting bilirubin cannot be properly cleared by the liver, which is still immature and not as effective at processing bilirubin in newborns as in older infants.

Physiological jaundice is typically detected after the first day of life and is not associated with other symptoms. It usually resolves on its own within one or two weeks without causing problems.

Because jaundice can occur in healthy newborn babies, it can make it more complicated to identify biliary atresia in the first weeks after birth. If prolonged jaundice is observed beyond the first two weeks of life, however, babies should be evaluated for liver diseases such as biliary atresia.

There are three major types of jaundice, depending on the underlying condition that is causing high bilirubin levels in the blood. While the symptoms overlap, a doctor can run tests to distinguish the underlying cause of jaundice:

• Pre-hepatic jaundice occurs when there is excessive red blood cell destruction, and the liver cannot keep up in clearing the resulting bilirubin from the blood. This type, which can occur due to certain blood disorders, increases the levels of unconjugated bilirubin in the blood.
• Hepatic jaundice develops when liver dysfunction or damage prevents the organ from effectively conjugating bilirubin and excreting it in bile. This is marked by elevated levels of both unconjugated and conjugated bilirubin in the blood.
• Post-hepatic jaundice happens when the flow of bile between the liver and the intestines is blocked, thereby increasing blood levels of conjugated bilirubin. Also known as obstructive jaundice, this is the type of jaundice that occurs in infants with biliary atresia due to bile duct blockage.

Biliary atresia poop

Normally, when bilirubin is metabolized in the intestines, it turns a brownish color that contributes to the characteristic color of stool. A healthy baby may have brown, green, or yellow stools that slightly differ based on whether they are breastfed or bottle-fed.

Biliary atresia poop is normally very pale, clay-colored, gray, or white, which is a sign that not enough bilirubin is making its way to the intestines via the bile. Doctors refer to this symptom as acholic stools. If caregivers notice that the poop of a child in their charge has a concerning color, they’re advised to contact a doctor for additional screening.

Bile is important for fat digestion in the intestines, so babies with biliary atresia might not be able to digest fat as effectively as their healthy counterparts. In turn, this can lead to steatorrhea, in which excessive amounts of fat are excreted in the stool, leading to foul-smelling or floating stool. Parents or caregivers who observe any unusual or sudden changes to a child’s stool are advised to contact a physician.

Later symptoms

After the earliest disease symptoms, babies may develop other signs of biliary atresia, usually within the first 6-10 weeks of life. Among these biliary atresia signs and symptoms are the following:

• A growth delay or failure to thrive may occur, typically due to an inability to properly absorb nutrients, including fats and fat-soluble vitamins. If a baby is not gaining weight or is losing weight, it could be a sign of biliary atresia or other conditions that impair nutrient absorption.
• Itching is a common symptom of several liver diseases, and is thought to be associated with the buildup of certain bile components in the bloodstream and skin.
• Irritability may occur among some infants.
• A swollen belly may be observed, with this issue due to fluid buildup in the abdomen.

Potential complications

If not treated promptly, biliary atresia can lead to liver damage and liver function impairments that may cause serious or life-threatening complications over the long term. Potential biliary atresia complications include:

• an enlarged liver, also known as hepatomegaly
• cirrhosis, or irreversible liver scarring and damage
• portal hypertension, or increased pressure in the liver’s main blood vessel due to cirrhosis
• liver failure, in which the liver can no longer perform its functions and a patient needs a liver transplant to survive.

These problems, in turn, can lead to other issues. For example, portal hypertension can beget complications such as internal bleeding and fluid buildup in the abdomen, which may increase the risk of abdominal infections.

Without treatment, infants with biliary atresia generally will develop liver cirrhosis in the first six months of life. Biliary atresia symptoms in a 1 year old may evolve to include liver failure, while biliary atresia symptoms in a 2 year old may be associated with the need for a liver transplant.

A surgery called the Kasai procedure, which is normally used in biliary atresia management, can help slow or prevent the onset of liver failure in people with the condition. Outcomes tend to be better, however, when the procedure is performed in the first two months of life.

Early disease identification is critical to ensure babies get a biliary atresia diagnosis right away. That is crucial to allow a patient to receive biliary atresia treatment when it’s most effective. Parents and caregivers are advised to promptly see their child’s doctor if they notice any biliary atresia signs and symptoms.

Liver Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.