Anna M. Banc-Husu, MD Division of Gastroenterology, and Nutrition | Ann & Robert H. Lurie Children’s Hospital of Chicago | 225 East Chicago Avenue, Chicago, IL 60611

What is biliary atresia? What causes biliary atresia? How is biliary atresia treated? • Biliary atresia (BA) is a of infancy that is the • The cause of biliary atresia is unknown. Kasai Procedure • Blocked ducts are leading cause of pediatric . () • Research is currently underway to find the exact cause of removed and a piece of small • Biliary atresia is characterized by destruction of the bile biliary atresia. Several explanations exist including: intestine is connected to the ducts both inside and outside of the liver. o Some trigger (possible virus or environmental toxin) liver to allow direct flow of • Bile ducts normally carry bile from the liver to the causes one’s own immune system to attack ‘self’ bile from the liver. , and eventually into the intestines. components of the bile ducts • Bile is composed of waste and other products • Best outcome if performed necessary for digestion and absorption of nutrients. o Abnormalities in the formation and organization of the before 45 days of life. bile ducts early on in development It’s accumulation in the liver is toxic. • If performed after 3 months o Predisposing genetic factors • In biliary atresia, these bile ducts are damaged leading to of age, only 25% of infants accumulation of bile, damage to the liver cells, and eventual will have successful drainage scarring of the liver called . How is biliary atresia diagnosed? of bile. (McCance and Huether, Pathophysiology: the biologic basis for disease in adults and children, 2010) Liver • BA is diagnosed early in infancy. Liver Transplantation • Combination of clinical, laboratory, and radiological studies

• Stool color is a key to early detection. • Up to 80% of patients ultimately require a liver transplant due to progression and complications of end- stage , such as GI bleeding, ascites (increased Stool Color Card Small/absent Clinical Presentation abdominal fluid), worsening , and poor growth.

extrahepatic • No symptoms at birth • Only 25% of patients with a Kasai procedure will survive bile ducts into their 20s without requiring a liver transplant. • By 2-6 weeks of age: • Yellowing of the skin • Long-term survival after liver transplantation is over No flow of • Pale stools 90%, similar to children receiving a liver transplant for Abnormal bile into • Large liver and other reasons. Gallbladder intestines • Abnormal liver tests Additional Diagnostic Studies Improving patient outcomes

Who is affected by biliary atresia? • Ultrasound (US) • Early diagnosis is critical for a successful Kasai procedure. • May show absent gallbladder • Biliary atresia occurs in infants less than 3-4 months of age. • • Biliary atresia cannot be prevented as there still is no clear But, up to 20% of patients may have a normal US cause of the disease. • It is a rare disease and occurs in 1 in 12,000 live births in • Hepatobiliary scintigraphy (HIDA Scan) the United States per year. • Checks for excretion of bile from liver into the intestines • Ongoing research to improve outcomes:

• Up to 10-20% of infants with biliary atresia may have other • • Screening programs using stool color cards has led to • Characteristic findings of obstruction earlier detection and improved outcomes associated malformations including multiple , abnormal vessels supplying or draining the liver, or heart • Intraoperative Cholangiogram • Identifying the exact cause of biliary atresia can lead to defects. • Injection of the bile ducts with contrast in the operating earlier diagnostic screening tests and new treatment room to watch for drainage into intestines strategies • No specific risk factors have been identified.