We evaluate many common conditions every day in the Peds ED.  We become very comfortable with them.  As we have discussed several times previously, part of our job is to remain every vigilant for those rare, yet dangerous, entities that present in a similar fashion to the common, benign conditions.  Hyperbilirubinemia is often encountered.  What might make you concerned for something more ominous than breastfeeding jaundice?  When should you consider Biliary Atresia?

Biliary Atresia: Basics

• Inflammatory Destruction of the intrahepatic and extra hepatic bile ducts!
  • Exact etiology is debated and being researched heavily.
• Biliary atresia is rare, but is the leading cause of liver transplantation in children.
  • 5-7 / 100,000
  • More common in Asia and Pacific regions – 10-32 / 100,o00
  • Most frequent surgically correctable liver disorder in infancy.
• Early diagnosis is important! [Mieli-Vergani, 2009; Wadhwani, 2008]
  • Median age at diagnosis for those with good outcomes = 52 days
  • Median age at diagnosis for those with poor outcomes = 72 days
  • Those diagnosed at >100 days had universally poor outcomes
  • Surgical outcomes are better when performed at <60 – 90 days and worse after 90 days.
  • Unfortunately, some children may not have even had their 1st visit to the Primary Care Physician by the time their condition has become critical.

Biliary Atresia: Two Forms

• Perinatal or Postnatal 
  • More common (90%)
  • Possible infectious related
• Fetal or Embryonic
  • Less common (10%)
  • High frequency of associated malformations
    • Cardiovascular defects
    • Polysplenia or Asplenia
    • Abdominal situs inversus
    • Intestinal Malrotation
    • Portal Vein and Hepatic Artery abnormalities

Biliary Atresia: Presentation

• Unfortunately, the initial presentation can be subtle.
• 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.
  • Conjugated Hyperbilirubinemia
    • There are other causes (ex, neonatal hepatitis), but Biliary Atresia needs to be high on your list of concerns!!
      • Liver disease manifesting as conjugated hyperbilirubinemia accounts for ~1 in 500 cases of jaundice in kids 2-4 weeks of age.
    • Unconjugated hyperbilirubinemia can be associated with other bad conditions (ex, Sepsis, Gilbert’s Syndrome), so don’t get complacent if it is not conjugated.
  • Hepatomegaly
    • Get in the habit of always feeling for (and documenting) the liver edge!
    • It can be helpful in so many critical childhood conditions (ex, Subtle Signs of Heart Failure).
  • Acholic Stools
    • Ask specifically about this. [Mieli-Vergani, 2009]
    • Can be difficult for discern when mixed with urine.
    • Stool cards have been successful in helping to alert to this diagnosis.
  • Dark Urine
    • May be difficult to discern also.
    • Consider obtaining a urine when concerned.
  • Failure to thrive, splenomegaly and ascites appear later, after the time when intervention is unlikely to be helpful. [Mieli-Vergani, 2009]

Biliary Atresia: Treatment

• Coagulopathy, if present, is responsive to Vitamin K
• Surgery
  • Kasai Procedure
    • Best predictor of success is age at surgery, emphasizing importance of early diagnosis [Mieli-Vergani, 2009]
      • Good bile flow seen in 80% if operated on by 60 days of age.
      • If operation is later, only 20-30% had good bile flow.
    • 33-50% of those who undergo a Kasai will still require a liver transplant.
  • Liver Transplant
    • Used for those who fail Kasai procedure.
    • Disease does not recur after liver allograft.
• Prior to the surgical strategies, there was a 100% mortality by 2 years of age… now 90% survive into adulthood.

References