Biliary atresia

Definition: What is biliary atresia?

Biliary atresia refers to a malformation of the bile ducts that becomes apparent in early childhood. Those children affected commonly develop classic signs of biliary obstruction within the first few weeks after birth, including yellowing of skin and eyes (medical term: jaundice), pale stools, and dark urine. The reason for these symptoms lies in the impaired outflow of bile from the gallbladder through the bile ducts into the bowel. The exact cause of biliary atresia is undetermined, although it appears to be caused by an interaction of genetic factors and environmental influences. As mentioned, exact triggers and causes of biliary atresia in children are not fully understood. Several theories prevail, and they can be broadly summarized into three potential causes. It is important to point out, though, that so far none of these theories have been proven to be true, and currently it is believed that several triggers are involved.

• Genetic changes: There are cases in which biliary atresia occurs along with other genetic syndromes, leading to the suspicion that it's a disease that results from genetic change.
• Infections & inflammations: As symptoms of biliary atresia often arise a few weeks after birth, some researchers speculate that they may be the outcome of previous infections, such as rotavirus. So far, studies on this theory have not yielded conclusive results, however.
• Autoimmune reactions: A further theory suggests that certain patients with biliary atresia exhibit enhanced autoimmunological inflammatory processes of the bile ducts. Hence, the possibility of autoimmune reactions leading to biliary atresia is subject of discussion.

Symptoms: What constitutes biliary atresia?

Biliary atresia classically presents with symptoms of biliary obstruction. For example, such symptoms include a yellow discoloration of the skin and sclerae in the eye, pale stools and dark urine. These symptoms stem from the impaired breakdown of bilirubin, a component of hemoglobin, the red blood pigment. The malformation of the bile ducts prevents the bilirubin from being passed into the intestine and excreted there. After a while, bilirubin accumulates in the blood, and above a certain level it can be seen in the color of the skin and eyes. As bilirubin is normally excreted through the intestines, where it gives the stool its dark color, patients with biliary atresia commonly have lighter colored stool. This excess bilirubin is passed by the urine, which turns darker as a reaction to the disease. Overall, there is a shift in the levels of bilirubin excreted in the stool and urine in patients with biliary atresia.

Diagnosis of biliary atresia

If suspected, biliary atresia should be diagnosed soon after birth of the child, as this can prevent severe liver damage. Normally, a blood test will show an increased level of bilirubin, as there is no way to excrete it via the intestines so that it accumulates in the blood. Additionally, some imaging studies of the liver and gallbladder are done, such as ultrasound examination or an MRI to visualize the bile ducts, which in case of biliary atresia are mostly only rudimentary structures. Depending on how severe the disease is, other methods such as a liver biopsy or scintigraphy of the liver, may be of help to make the diagnosis. All patients with biliary atresia have to undergo surgery and therefore the suspicion is very often finally confirmed in the operating room.

Treatment and therapy options for biliary atresia

Given the fact that biliary atresia is a permanent alteration of the bile ducts, surgery is the only way to treat it. For instance, one option is to connect the preserved bile ducts or gallbladder directly to the bowel and remove the stunted parts of the bile ducts. This will create a connection of the gallbladder to the intestine and the bile will drain properly.

If the diagnosis of biliary atresia is made too late and it already caused cirrhosis of the liver, liver transplantation is the only possible treatment. Transplantation is also the preferred option if the above-mentioned surgical method has failed.

Prognosis for children with biliary atresia

The prognosis for children with biliary atresia varies significantly based on the source of information. In essence, a good chance of cure is associated with an early diagnosis and successful surgical management. Nevertheless, despite treatment and what appears to be cure, most patients are expected to progress to chronic deterioration of the liver function, requiring liver transplantation as they grow into adolescence. More than half of affected children require a new liver before they turn 19. All in all, biliary atresia represents the most frequent reason for liver transplantation in childhood. However, with continuous therapy and adequate medical support, children and adolescents can live a more or less symptom-free life. Particularly after a successful transplantation, patients have a good prognosis and an almost normal life expectancy.

Which doctors and clinics specialize in biliary atresia?

Usually, pediatricians diagnose biliary atresia during the first examinations after the delivery of the newborn. These examinations can be performed in an outpatient setting or in a clinic equipped with a pediatric and neonatology department. Further examinations by pediatric gastroenterologists, who are experts for the gastrointestinal tract and the liver of children, may also be necessary. As the treatment is surgery, it is carried out by specially trained pediatric surgeons. The surgery requires a referral from the attending pediatrician to a hospital with a pediatric surgery department.

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