biliary atresia

Biliary Atresia: Causes, Pathogenesis, Symptoms, Diagnosis, and Treatment

Introduction: What is Biliary Atresia?

Biliary atresia is a rare, progressive liver disorder in infants where the bile ducts become inflamed, blocked, or completely absent. Since bile cannot drain from the liver into the intestine, it accumulates in the liver, leading to liver inflammation, scarring (cirrhosis), and eventual liver failure if untreated.

Pathogenesis of Biliary Atresia

The pathogenesis of biliary atresia is multifactorial and not fully understood, but several mechanisms have been proposed:

  1. Prenatal Factors:
    In some cases, bile duct malformation begins in utero, possibly due to genetic or developmental anomalies.

  2. Perinatal Inflammatory Insult:
    The most accepted theory involves perinatal immune-mediated bile duct injury, possibly triggered by viral infections (e.g., rotavirus, reovirus type 3, cytomegalovirus). These infections may lead to

  3. Autoimmune Reaction:
    Abnormal immune activation against bile duct antigens may contribute to ongoing inflammation.

Morphology of Biliary Atresia

The gross and microscopic morphology of biliary atresia includes

Gross Morphology:

  • Absence or narrowing of the extrahepatic bile ducts

  • Firm, enlarged liver with greenish discoloration

  • Nodular surface indicating early cirrhosis

Microscopic (Histological) Features:

These features are similar to other forms of neonatal cholestasis, which is why liver biopsy is essential for diagnosis.

Types of Biliary Atresia

Biliary atresia can be categorized into:

  1. Fetal (Embryonic) Type:

    • Present at birth

    • Associated with other anomalies (e.g., situs inversus, polysplenia)

  2. Perinatal (Acquired) Type:

    • Normal bile ducts at birth

    • Damage develops within the first few weeks of life

    • Most common form

Clinical Features of Biliary Atresia

The clinical presentation typically appears within the first 2 to 8 weeks of life. Common signs and symptoms include:

  • Persistent jaundice (lasting beyond 2 weeks after birth)

  • Clay-colored (pale) stools

  • Dark urine

  • Hepatomegaly (enlarged liver)

  • Splenomegaly (in later stages)

  • Poor feeding and weight gain

  • Irritability

  • Failure to thrive

  • Ascites and edema in advanced liver failure

Diagnosis of Biliary Atresia

Early and accurate diagnosis is critical. Tests include:

Treatment of Biliary Atresia

1. Kasai Portoenterostomy:

  • A surgical technique that removes the damaged bile ducts and connects the liver to the small intestine.

  • Best performed before 60 days of age

  • Slows liver damage but does not cure the disease

2. Liver Transplantation:

  • Required if Kasai fails or cirrhosis progresses

  • Considered the definitive and curative treatment

Complications of Untreated Biliary Atresia

  • Cirrhosis

  • Liver failure

  • Malnutrition

  • Portal hypertension

  • Growth delays

  • Death within 2 years if untreated

Physiotherapy Management

Although physiotherapy doesn't target the liver, it is important pre- and post-operatively, especially after transplant:

  • Chest physiotherapy to reduce respiratory infections post-surgery

  • Mobility exercises to prevent deconditioning

  • Developmental support if growth delays are present

  • Nutritional physiotherapy support in collaboration with dietitians

Prognosis

  • Children undergoing early Kasai procedure have a 50–60% chance of delaying liver transplant

  • 80–90% survival rate post-liver transplantation

  • Early diagnosis and a multidisciplinary team improve outcomes

Prevention

There is no proven method of prevention. However:

  • Early recognition of jaundice that lasts beyond 2 weeks

  • Education for healthcare professionals and parents

  • Timely referrals to pediatric gastroenterologists

FAQs About Biliary Atresia

Q1: How soon should surgery be done?
A: Preferably before 60 days of age.

Q2: Is biliary atresia fatal?
A: If untreated, it can be fatal within two years.

Q3: Can it come back after transplant?
A: No, the disease does not recur in the transplanted liver.

Q4: Can adults have biliary atresia?
A: No, it is a pediatric disease, though adults may live with its long-term consequences if treated early.

References

  1. Sokol RJ, Mack C, Narkewicz MR, Karrer FM. "Pathogenesis and management of biliary atresia." J Pediatr Gastroenterol Nutr. 2003.

  2. Petersen C. "Surgical management of biliary atresia." Best Pract Res Clin Gastroenterol. 2006.

  3. American Liver Foundation. https://www.liverfoundation.org

  4. Children’s Liver Disease Foundation. https://www.childliverdisease.org

  5. Mieli-Vergani G, Vergani D. "Biliary atresia and autoimmune sclerosing cholangitis in children." Semin Immunopathol. 2009.


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