Infants born with biliary atresia usually appear to be normal and are healthy at birth. The symptoms begin to show effect after few weeks.

The following are the signs and symptoms of biliary atresia:

• Eyes and skin turn yellow in color due to development of jaundice.
• Urine is dark in color due to accumulation of bilirubin which is excreted in urine by the kidneys.
• Hepatomegaly
• Splenomegaly
• Weight loss
• Irritability
• Infant passes clay colored stools because of absence of bile or bilirubin.
• Inflammation of the abdomen due to enlarged liver.
• Poor growth

• Malingering

  PubMed Google Scholar Celentano C, Malinger G, Rotmensch S, Gerboni S, Wolman Y, Glezerman M: Prenatal diagnosis of interrupted inferior vena cava as an isolated finding: a benign vascular malformation. [doi.org]

  Am J Perinatol. 1999; 16 :469–473. [ PubMed ] [ Google Scholar ] Celentano C, Malinger G, Rotmensch S, Gerboni S, Wolman Y, Glezerman M. Prenatal diagnosis of interrupted inferior vena cava as an isolated finding: a benign vascular malformation. [ncbi.nlm.nih.gov]

• Clay-Colored Stool

  Symptoms Symptoms of biliary atresia include weight loss, irritability, yellowish color of the skin and eyes, dark colored urine, clay colored stool, swollen abdomen due to enlarged liver and poor growth. [symptoma.com]

  Other symptoms may include: Dark urine Enlarged spleen Floating stools Foul-smelling stools Pale or clay-colored stools Slow growth Slow or no weight gain The health care provider will perform a physical exam, which includes feeling the baby's belly area [nlm.nih.gov]

  Other symptoms may include: Dark urine Enlarged spleen Floating stools Foul-smelling stools Pale or clay-colored stools Slow growth Slow or no weight gain Exams and Tests The health care provider will perform a physical exam, which includes feeling the [ufhealth.org]

• Intestinal Atresia

  BA with other congenital malformations - Occurs in about 5% of affected infants and they present with malformations in organ systems such as the kidneys and may have heart defects, intestinal atresia, and imperforate anus. [news-medical.net]

  About 15 to 25% of infants have other congenital defects, including polysplenia/asplenia, intestinal atresia, situs inversus, and cardiac anomalies or renal anomalies. 1. [merckmanuals.com]

  The purpose of this procedure is to promote bile flow into the intestine. [sages.org]

• Abdominal Pain

  There are signs of sepsis (fever or hypothermia, impaired haemodynamic status), recurrent jaundice, acholic stools and perhaps abdominal pain. Diagnosis can be confirmed by analysis of blood cultures and/or liver biopsies [ 78 ]. [doi.org]

• Jaundice

  […] of bilirubin, hypoxia, acidosis, drugs (e.g., sulfonamides, aminosalicylic acid [ASA]) Acquired cholestatic jaundice: Hepatocellular cholestatic jaundice, neonatal hepatitis, ductal cholestatic jaundice, biliary hypoplasia, paucity of intrahepatic bile [surgery4children.com]

  After that point, the baby will lose weight and become irritable, and will have worsening jaundice. [nlm.nih.gov]

  but within the first two months of life, jaundice develops and stools become progressively acholic. [sages.org]

  KEYWORDS: Biliary atresia; Cholangitis; Malnutrition; Ratio of jaundice clearance; Two-year native liver survival [ncbi.nlm.nih.gov]

• Neonatal Jaundice

  Choledochal cyst and biliary atresia are rare but important causes of neonatal jaundice. Both present with jaundice and acholic stool in neonatal period. Treatment and prognosis of both entities are very different. [ncbi.nlm.nih.gov]

  Symptoms - Biliary atresia Initially, the symptoms of biliary atresia are indistinguishable from neonatal jaundice, a usually harmless condition commonly seen in infants after birth. [checkorphan.org]

  Issues that should raise your concern: Prolonged neonatal jaundice Physiologic jaundice in healthy, full-term newborns typically resolves by the 5th or 6th day. Jaundice appearing outside the 1st week of life should raise your concern. [pedemmorsels.com]

  Initially, the symptoms of biliary atresia are indistinguishable from those of neonatal jaundice, a usually harmless condition commonly seen in infants. [en.wikipedia.org]

• Hepatosplenomegaly

  Curr Opin Pediatr 27(3):389–394, 2015. doi: 10.1097/MOP.0000000000000214 Symptoms and Signs Infants with biliary atresia are jaundiced and often have dark urine (containing conjugated bilirubin), acholic stools, and hepatosplenomegaly. [merckmanuals.com]

  […] may cause staining of diaper which could lead to it being mistakenly identified as colored stool Coagulopathy – responsive to IV vitamin K Failure to thrive – with excessive feeding, caused by poor absorption of long-chain fats and a catabolic state Hepatosplenomegaly [pedclerk.bsd.uchicago.edu]

• Sweating

  The sweat chloride concentration should also be determined to rule out cystic fibrosis. Frequently, additional testing is needed to evaluate for other metabolic, infectious, genetic, and endocrine causes of neonatal cholestasis. [merckmanuals.com]

  Infectious, genetic and metabolic studies — Tests on sweat, blood and urine may be done to look for other causes of liver problems that sometimes look very similar to biliary atresia. [chop.edu]

• Dark Urine

  Curr Opin Pediatr 27(3):389–394, 2015. doi: 10.1097/MOP.0000000000000214 Symptoms and Signs Infants with biliary atresia are jaundiced and often have dark urine (containing conjugated bilirubin), acholic stools, and hepatosplenomegaly. [merckmanuals.com]

  Other symptoms may include: Dark urine Enlarged spleen Floating stools Foul-smelling stools Pale or clay-colored stools Slow growth Slow or no weight gain The health care provider will perform a physical exam, which includes feeling the baby's belly area [nlm.nih.gov]

  These may include: jaundice (yellowing of the eyes and skin) dark urine light-colored stools Signs that may appear later include: distended (swollen) abdomen weight loss These are later signs, not usually in the first months of life. [childrenshospital.org]

A combination of tests is required for the diagnosis of biliary atresia. No single test can draw proper conclusion.

The following are the various methods employed for diagnosing biliary atresia:

• Blood test to check for liver function.
• X-ray of the abdomen is done to check for an enlarged liver and spleen.
• Ultrasound examination of the abdomen is necessary to determine the presence of gall stone if any [7].
• Endoscopic retrograde cholangiopancreatography (ERCP) may be used to investigate direct hyperbilirubinemia among neonates [8].
• Liver biopsy is very reliable and can provide definite diagnosis. If the test reveals that the infant is likely to develop biliary atresia then further procedures can be done to treat the condition.
• Diagnostic surgery is finally done to confirm the diagnosis.
• A cholangiogram is done to detect whether the bile ducts are open or not [9]. Following this, the infants have to undergo the Kasai procedure.

The primary goal of treatment is to establish bile flow in order to prevent liver damage. This is obtained through the Kasai procedure which is a surgical intervention that uses a piece of small intestine to create a new drainage system in place of the blocked bile ducts. About one third of children benefit from this procedure. Kasai procedure can in no way reverse the damage that has already occurred to the liver.

In cases when the Kasai procedure was not successful to bring about positive effect, then liver transplant is the final alternative available. Liver transplantation is successful in 80 to 90% of the cases, and children really benefit from this procedure [10].

Prognosis of the disease condition is good only if appropriate treatment has been initiated. Majority of the infants would require a liver transplant before the age of 20 years. Post this, the prognosis is usually good and children can live a healthy life. However, there have been cases, where children are unable to survive the disease and do not live longer than 2 years.

Complications

Complications of biliary atresia include the following:

• Infection of the bile ducts after treatment with Kasai procedure
• Epistaxis
• Bruising of the skin
• Accumulation of body fluid
• Bleeding in the stomach and intestines due to increase in the pressure in the veins
• Biliary strictures as post liver transplant complication [5]
• Hepatic cirrhosis [6]

The etiology behind biliary atresia is unknown. However, a complex set of procedures is thought to give rise to inflammation of the bile ducts soon after birth. In addition, infants born with such disease condition also suffer from other congenital defects as well. Certain pieces of evidence suggest that pre-partum viral infections like those with cytomegalovirus [2], hepatitis B and hepatitis C virus can cause biliary atresia in the infant [3].

Studies suggest a genetic defect in the etiology of biliary atresia in the newborn [4]. Apart from this, there are no factors that are known to give rise to such kinds of congenital diseases.

Biliary atresia is a rare disorder affecting about 1 in every 10,000 to 20,000 infants in United States. Females are more prone to contract this disease compared to males. Premature babies are also at an increased risk of developing this condition. This disease more commonly strikes the Asian or African American population.

Biliary atresia is a congenital disease wherein the bile ducts are either blocked or absent at birth. Such a condition inhibits the passage of bile from the liver and causes it to accumulate in the organ.

Bile is made up of various components; with bilirubin being one of them. When the bile ducts are blocked, the bile along with bilirubin gets accumulated in the liver. Such sequence of events leads to development of jaundice and subsequent liver damage. This then leads to progression of liver cirrhosis and finally liver failure.

The cause behind biliary atresia is not known and therefore it is difficult to prevent its development. Complications and liver damage can be prevented if early intervention is carried out. Infants should receive proper diagnosis if jaundice developed at birth continues for 2 weeks or even more. In such cases it is best to consult a specialist.

Biliary atresia is a rare congenital or acquired disease. The disorder is characterized by inflammation or discontinuity of the bile ducts preventing the bile from moving out of the liver [1]. Such a condition leads to accumulation of bile in the liver leading to serious liver damage and gradual loss of liver function.

Infants usually develop the disease soon after birth and majority of them are unable to survive beyond 2 years. Symptoms begin to show effect within 2 to 8 weeks after birth of the baby.

Definition

Biliary atresia is a disease characterized by absence or blocked bile ducts in infants. It is a rare congenital disorder with no known cause. It is not a contagious disease. Biliary atresia is known to affect 1 in every 10,000 to 20,000 infants worldwide.

Cause

The exact cause of biliary atresia is not known. Infections and heredity do not cause this congenital disease. However, researchers believe that some viral infections during birth can lead to development of biliary atresia.

Symptoms

Symptoms of biliary atresia include weight loss, irritability, yellowish color of the skin and eyes, dark colored urine, clay colored stool, swollen abdomen due to enlarged liver and poor growth.

Diagnosis

Diagnosis of the biliary atresia consists of blood test to assess liver functioning. Urine and stool samples are also analyzed. CT scan of the liver is done to determine liver inflammation. A liver biopsy test is carried out for further differential diagnosis. 

Treatment

Treatment of biliary atresia includes surgical intervention to replace the blocked bile ducts with a new one. This method is known as the Kasai procedure. In many cases, liver transplant may be necessary.

1. Haber BA, Erlichman J, Loomes KM. Recent advances in biliary atresia: prospects for novel therapies.Expert Opin Investig Drugs. Dec 2008; 17(12):1911-24.
2. Fischler B, Ehrnst A, Forsgren M, et al. The viral association of neonatal cholestasis in Sweden: a possible link between cytomegalovirus infection and extrahepatic biliary atresia. J Pediatr Gastroenterol Nutr. Jul 1998; 27(1):57-64.
3. Yaghobi R, Didari M, Gramizadeh B, Rahsaz M, Heidari T. Study of viral infections in infants with biliary atresia.Indian J Pediatr. 2011; 78(4):478-81
4. Uemura M, Ozawa A, Nagata T, et al. Sox17 haploinsufficiency results in perinatal biliary atresia and hepatitis in C57BL/6 background mice. Development. Feb 2013; 140(3):639-48. 
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7. Iorio R, Liccardo D, Di Dato F, Puoti MG. Ultrasound scanning in infants with biliary atresia: the different implications of biliary tract features and liver echostructure. Ultraschall Med. 2013; 34(5):463-7 
8. Shteyer E, Wengrower D, Benuri-Silbiger I, Gozal D, Wilschanski M, Goldin E. Endoscopic retrograde cholangiopancreatography in neonatal cholestasis. J Pediatr Gastroenterol Nutr. Aug 2012; 55(2):142-5.
9. Lee SY, Kim GC, Choe BH, Ryeom HK. Efficacy of US-guided percutaneous cholecystocholangiography for the early exclusion and type determination of biliary atresia. Radiology. 2011; 261(3):916-22 
10. Bassett MD, Murray KF. Biliary atresia: recent progress. J Clin Gastroenterol. Jul 2008; 42(6):720-9.