By A.J. Hostetler

A new guidance, co-authored by a leading pediatric hepatologist with Virginia Commonwealth University, offers a groundbreaking strategy to help detect a rare and potentially deadly liver disease in newborns earlier than ever.  

This new screening strategy, published by the American Academy of Pediatrics, represents a significant advancement in pediatric health care, offering hope to families affected by biliary atresia. The condition, which blocks the flow of bile from the liver to the intestine, is the leading cause of liver transplants in infants. Early detection and treatment can significantly improve outcomes and reduce the need for liver transplantation. 

“Biliary atresia can initially appear similar to common newborn jaundice, making it difficult to detect,” said pediatric liver specialist Saul Karpen, M.D., Ph.D., who is the chief scientific officer of the VCU Stravitz-Sanyal Institute for Liver Disease and Metabolic Health and president-elect of the American Association for the Study of Liver Disease. 

“By the time more severe symptoms develop, the window for the most effective treatment has often passed. Our strategy is designed to change that,” added Karpen, a professor at the VCU School of Medicine with an adjunct appointment in pediatrics at Children’s Hospital of Richmond at VCU.  

His research efforts in biliary atresia led, in 2019, to identification of the first genetic defect linked to the congenital condition, in which an infant’s bile ducts are blocked, preventing the liver from expelling bile to the small intestine. Bile is the substance that the liver produces to carry waste products to the intestines, which absorb vital nutrients to help the infant grow.  

Biliary atresia affects approximately 1 in 8,000 to 18,000 newborns each year, according to the American Liver Foundation. The condition affects babies from birth and becomes evident in their first few months of life. Left undiagnosed and untreated, it can quickly lead to severe liver damage, and even death, before a year of age.  

With surgery, best performed in the infant’s first 6 weeks, about 80% to 90% of infants will survive into adulthood, often requiring liver transplantation. However, in the United States, the average age of diagnosis and treatment is after 60 days, largely due to the condition’s subtle and easily overlooked symptoms. 

The new strategy, developed by Karpen and colleagues principally from Texas, is intended for use at the “By 1 month” well-child visit, which typically occurs between 2 and 4 weeks of age, as recommended by the American Academy of Pediatrics’ Bright Futures guidelines. It involves three simple steps that call for pediatricians to: 

• Examine eye or skin color: Persistent jaundice beyond 2 weeks of age can be an early sign of biliary atresia. 
• Inspect stool color: Pale, gray or white stools may indicate a blockage preventing bile from reaching the intestine. 
• Review laboratory results: If blood tests were previously conducted, high levels of direct or conjugated bilirubin could indicate the condition. 

If any warning signs are present, the new guidance calls for pediatricians to measure the infant’s bilirubin levels, a substance that makes the skin and eyes yellow. A reading of 1 mg/dL or higher means the pediatrician should suspect biliary atresia and consult immediately with a liver specialist. This guidance streamlines the early identification of infants at risk, potentially leading to lifesaving interventions, such as the surgery called Kasai portoenterostomy. 

Biliary atresia accounts for 60% of liver transplants in infants under age 1 and 30% of all liver transplants in children. By detecting the condition, this strategy has the potential to dramatically improve survival rates and reduce the burden of liver transplantation on affected families. 

“This new approach empowers pediatricians to identify biliary atresia during routine well-child visits,” Karpen said. “Early intervention is crucial, and this strategy offers a practical way to make a significant impact on infant health outcomes.” 

The guidance’s authors advocate for the eventual implementation of universal screening methods, such as stool color cards or routine bilirubin testing, which have been successfully used in other countries. These methods have been shown to detect biliary atresia sooner and improve treatment outcomes. 

The strategy builds upon a discovery by Karpen and his colleagues in 2011 that patients with biliary atresia may be detected early due to elevation of a standard blood test, direct bilirubin. 

Learn more about the VCU Stravitz-Sanyal Institute for Liver Disease and Metabolic Health

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