Biliary Atresia - Meaning, Symptoms, Causes, Treatment

Biliary atresia, a rare liver disease that strikes newborns and infants, casts a shadow of concern over families and medical professionals. It obstructs the bile ducts, disrupting the bile flow and leading to liver damage and alarming complications. With an incidence rate of about one in every 10,000 to 20,000 live births, early detection and intervention are vital to confronting this disease.

Prompt surgical intervention is the main treatment for biliary atresia. The parents of the affected children need to understand what they can expect while managing this complex condition. The following article discusses biliary atresia types, symptoms, causes, diagnosis, and treatment. Continue reading to find out.

Biliary atresia is a serious liver condition that primarily affects newborn babies. It is characterised by the absence, blockage, or narrowing of the bile ducts, which carry bile from the liver to the gallbladder for digestion. Bile is a substance made and released by the liver. It helps break down fats and absorb food. 

In biliary atresia, the impaired or blocked bile flow leads to the accumulation of bile in the liver, causing damage and, eventually, scarring (cirrhosis). These complications can be deadly if not treated.

Biliary atresia is typically classified into two types. The distinction between the two types helps guide treatment decisions and predict the potential outcomes for affected individuals. Biliary atresia types include:

1. Perinatal Biliary Atresia: The most common type constitutes about 65 to 90% of all cases. Children with perinatal biliary atresia generally appear healthy at birth.
   The bile ducts become blocked or damaged after birth, typically when the baby is two to four weeks old. 

2. Foetal or Embryonic Biliary Atresia: This is a less common type that occurs in 10 to 35% of all biliary atresia cases.
   It is believed to occur during foetal development in the mother’s womb. 

There are also four other biliary atresia types based on the classification established by Kasai. These types include:

1. Type I: A partial or complete blockage of the common bile duct (a tube that carries bile from a person’s liver and gallbladder to the small intestine)

2. Type II a: Blockage of the common hepatic duct (a tube carrying bile from the liver that joins the cystic duct coming from the gallbladder to form the common bile duct)

3. Type II b: Blockage of the common bile duct, hepatic duct, and cystic duct (a tube that carries bile from the gallbladder and joins the hepatic duct to create the common bile duct).
   It does not involve gallbladder or cystically dilated ducts at porta hepatis (a deep fissure in the inferior surface of the liver through which major ducts enter or leave the liver). 

4. Type III: Blockage of the common bile duct, hepatic duct, and cystic duct with no anastomose ducts (ducts which can be connected together) at the porta hepatis.
   This is the most common type of biliary atresia.

Babies with biliary atresia generally appear healthy at birth. Symptoms usually start to show between two to eight weeks of birth. Biliary atresia symptoms in newborns may include the following:

1. Jaundice: Jaundice (yellowing of the eyes and skin) is often the earliest and most prominent sign of biliary atresia.
   It occurs due to the buildup of bilirubin in the blood, a yellow pigment produced when red blood cells break down. It develops slowly 2 to 3 weeks after birth. 

2. Dark Brown Urine: Some of the bilirubin that increases in the blood gets filtered by the kidneys and removed in the urine, giving it its dark colour. 

3. Light Beige Stools: Normally, stools in infants appear yellow, green or brown due to the presence of bilirubin. However, in biliary atresia, no bile or bilirubin is emptied in the intestine.
   The absence of bilirubin makes the stools appear pale or light beige. 

4. Swollen Belly: Some infants with biliary atresia may develop a swollen belly (abdomen) due to liver or spleen enlargement. 

5. Difficulty Gaining Weight or Weight Loss: Babies with biliary atresia may have problems with weight gain when the level of jaundice increases. 

6. Ascites: Babies can also develop fluid buildup in the belly, leading to a swollen abdomen (foetal ascites). 

Biliary atresia develops when the bile ducts inside or outside the newborn’s liver are absent, blocked, or narrow. The exact biliary atresia causes are not fully understood.
However, researchers know it is not inherited from parents. The possible causes of biliary atresia include:

1. Viral Infection after birth: Viral infections can trigger abnormal immune responses. A trigger in the body’s immune system may damage the bile ducts. 

2. Immune System Problems causing Inflammation and Scarring: Inflammation and scarring can cause an absence or obstruction of the bile ducts. This may result in biliary atresia. 

3. Exposure to Toxins: Toxins such as biliatresone can disrupt the hollow centres and proper orientation of duct cells. This could obstruct bile ducts and lead to biliary atresia. 

4. Genetic Mutations (changes): Several genes have been identified to be associated with biliary atresia, such as ADD3, ARF6, and MMP7. 

5. Perinatal Injury or Infection: A perinatal viral infection targets cholangiocytes (epithelial cells that line the bile ducts). This can lead to further bile duct injury.  

Risk Factors of Biliary Atresia

While the exact causes of biliary atresia remain unclear, certain factors have been identified as potential risk factors for developing the condition.
However, having one or more of these risk factors does not guarantee the development of biliary atresia. Risk factors of biliary atresia include:

1. Age: Premature babies have a higher risk of developing biliary atresia than full-term infants. 

2. Gender: Biliary atresia affects girls slightly more often than boys. 

3. Ethnicity: The condition affects infants of all ethnic backgrounds, but it is more prevalent in certain populations, such as Asian and African-American babies.

Currently, there is no known way to prevent the development of biliary atresia. It occurs in the womb or two to four weeks after birth, which is difficult to control or predict.
However, there are a few general measures that can promote overall infant health and potentially reduce the risk of certain complications:

1. Prenatal Screening: Maternal screening during pregnancy helps monitor the progress of the pregnancy, identifies any potential risks, infections or abnormalities early on, and allows for appropriate interventions when needed.

2. Avoiding Exposure to Harmful Substances: Minimising harmful exposure during pregnancy, such as avoiding tobacco smoke and alcohol consumption, can help boost foetal growth and development.

Biliary atresia diagnosis usually begins with the doctor evaluating the baby’s medical history and conducting a physical exam.
A physical examination is performed to feel for an enlarged liver. 

A paediatric hepatologist (a doctor specialising in treating children with liver diseases) may order other tests, including:

1. Blood Tests: To assess the levels of bilirubin, liver enzymes, and other markers of liver health and inflammation.

2. Abdominal X-ray: To look for enlarged liver or spleen.

3. Abdominal Ultrasound: To look for internal organs by transmitting high-frequency sound waves to the baby’s body tissues

4. Hepatobiliary Scintigraphy or HIDA scan: This test involves injecting a radioactive tracer which is absorbed by the child’s liver cells and excreted into the bile.
   The baby may have biliary atresia if the tracer is not excreted through the liver. 

5. Cholangiogram: It is an X-ray of the bile ducts. A dye is injected into the gallbladder during the test to see if it has a main bile duct. 

6. Liver Biopsy: It includes removing a small sample of cells or tissues from the liver for examination.
   The procedure helps determine the severity of cirrhosis and rule out other causes of jaundice. 

How to Prepare for Doctor’s Consultation?

Preparing for a doctor’s consultation for biliary atresia can help ensure that the baby’s parents make the most of their appointment and obtain the necessary information.
Here are some steps to consider when preparing for the consultation:

1. Take an appointment and be aware of any pre-appointment restrictions.

2. Gather all relevant medical information related to the child’s health.

3. Note down the symptoms the child has been experiencing, along with their duration and any observed changes.

4. Prepare questions for the doctor regarding biliary atresia, its diagnosis, treatment options, and prognosis.

What to Expect from the Doctor?

During a consultation for biliary atresia, the doctor may ask several questions to gather important information about the child’s symptoms, medical history, and potential risk factors.
These questions may include:

1. What symptoms did you notice in your child?

2. When did these symptoms first appear?

3. Can you describe the severity of jaundice?

4. Have you noticed any changes in your child’s appetite, weight, or growth?

5. Has your child’s stool gradually gotten lighter after one month of age?

6. Is your child’s urine dark brown?

7. Were there any complications during pregnancy or delivery? 

8. Have there been any potential exposures to toxins or harmful substances during pregnancy or in the child’s environment? 

9. Have there been any difficulties with feeding or weight gain?

Questions to Ask the Doctor

During a biliary atresia consultation appointment, it is essential to ask questions to better understand the condition, treatment options, and prognosis.
Here are some questions parents may consider asking the doctor:

1. What is the cause of biliary atresia?

2. Can it be another condition that mimics biliary atresia symptoms?

3. What diagnostic tests are recommended to confirm the diagnosis of biliary atresia?

4. Does my child have liver damage?

5. What are the available treatment options for biliary atresia? Which one do you recommend for my child’s case?

6. What are each treatment option’s benefits, risks, and success rates?

7. Will my child need a liver transplant?

8. Will my child need the Kasai procedure?

9. Can you explain the Kasai procedure in detail? What does the surgery entail, and what are the expected outcomes?

10. How frequently will my child need medical follow-ups and monitoring?

There is currently no cure for biliary atresia. The primary treatment for biliary atresia is a surgery called the Kasai procedure.
The procedure is most successful if done before the baby is eight weeks old. Biliary atresia treatment includes:

1. Kasai Procedure: In this procedure, the surgeon connects the liver and small intestine to restore the bile flow from the child’s liver to the intestines.
   The earlier the procedure is performed, the better the chances of success.

2. Paediatric Liver Transplant: The doctor may consider a liver transplant when the Kasai procedure is unsuccessful.
   Even if the surgery is successful, most children with biliary atresia may need a liver transplant before 20 years of age. 

Cost of Biliary Atresia Treatment

The cost of biliary atresia treatment depends on several factors, including the patient's age, the type of treatment method, the doctor’s expertise, hospital type and location, insurance coverage and much more.

To get the exact cost of the biliary atresia treatment, one must consult the doctor. However, the table below provides the cost of different treatment modalities to treat biliary atresia.

Prognosis of Biliary Atresia

The prognosis for biliary atresia can vary depending on various factors, including the age at which the condition is diagnosed, the skill of the paediatric surgeon, the success of the Kasai procedure, the presence of complications, and the overall liver function.
Generally, early detection and timely intervention are associated with better outcomes.

1. 90% of children with biliary atresia can survive into adulthood with the right medical support, Kasai procedure, and liver transplantation. 

2. 20 to 40% of children can survive into adulthood without a transplant. 

3. If the Kasai procedure is performed within 30 days, the child’s survival rate is about 50% at four years with their own liver. 

4. If the surgery is performed between 30 to 90 days, the survival rate is about 36% at four years. 

5. If the surgery is performed post 90 days, most children with the condition will require a liver transplant within the first year of their life. 

Biliary atresia can lead to complications due to progressive damage to the liver and bile ducts. However, the severity and occurrence of complications can vary among individuals.
Some common complications of biliary atresia include:

1. Malnutrition: Children with biliary atresia may have reduced bile flow to the small intestine.
   This may impair the absorption of fat-soluble vitamins and other nutrients, leading to malnutrition, affecting growth and bone health. 

2. Liver Cirrhosis: Over time, the obstruction of bile flow can cause inflammation and scarring of the liver (cirrhosis).
   Cirrhosis can impair liver function and lead to further complications.

3. Portal Hypertension: Cirrhosis can result in increased pressure in the portal vein (it carries blood from the intestines to the liver).
   This condition can cause complications such as enlarged blood vessels (varicose) in the oesophagus or stomach and ascites (fluid accumulation in the abdomen).

4. Liver Failure: In some cases, biliary atresia can progress to end-stage liver disease, resulting in liver failure.
   Babies with liver failure may require liver transplantation.

5. Death: If left treated, biliary atresia can be fatal. 

When to See a Doctor?

If a child has been diagnosed with biliary atresia, it is important to maintain regular contact with the healthcare team and follow the recommended schedule of follow-up appointments.
However, there are certain situations when parents should promptly contact a doctor for further evaluation and guidance. These include:

1. Worsening jaundice (yellowing of skin and eyes)

2. Dark brown-coloured urine

3. Pale or light beige stools

4. Lack of weight gain

5. Abdominal pain or swelling

Children with biliary atresia may have liver damage and reduced bile flow to the small intestine, causing problems such as:

1. Digesting fats

2. Low levels of vitamins and proteins

3. A faster metabolism with more calorie needs

4. Loss of appetite

Dietary management for biliary atresia aims to support optimal nutrition, growth, and liver health. While specific dietary recommendations may differ depending on the individual case, here are some general considerations for the diet of a child with biliary atresia:

1. A special formula of medium-chain triglyceride (MCT) during the first year of life. MCT is a special type of fat. 

2. A well-balanced diet for older children consists of three meals every day and small snacks in between meals.

3. Vitamin supplements (especially vitamins A, D, E, and K), which may be added to the formula, food, or breast milk

4. Adding MCT oil to foods. It adds extra calories and is easier to digest without bile. 

5. If the child is not getting enough nutrients by eating normally, the doctor may recommend feeding through a nasogastric feeding tube.
   This tube provides high-calorie liquid directly to the stomach. 

Biliary atresia is a complex and challenging condition affecting infants’ liver and bile ducts. Early detection, timely intervention, and ongoing medical care are vital in managing the disease and optimising outcomes.
The prognosis can vary. Some children can achieve long-term bile flow and normal liver function with successful surgical intervention. However, others may experience progressive liver damage, potentially leading to cirrhosis or the need for a liver transplant.

The HexaHealth team is here to provide comprehensive support and assistance for families dealing with biliary atresia. Our experienced healthcare professionals can help navigate the complexities of the condition, guide treatment options, and offer emotional support throughout the journey.
We can help coordinate medical appointments, provide educational resources, and connect families with a network of specialists. Contact us TODAY to know more.

Suggested Reads