What Causes Biliary Atresia?

Biliary atresia, which only affects newborns, is a condition in which the bile ducts are absent or blocked. Babies with biliary atresia typically appear healthy at birth, and symptoms begin to appear around two to eight weeks later. Patients present with jaundice (yellow discoloration of the skin or whites of the eyes), and they pass white or pale stools. A swollen abdomen, enlarged liver, and enlarged spleen might be observed, and patients often have dark-colored urine. Since biliary atresia affects fat absorption and increases metabolism, patients may struggle to gain an appropriate amount of weight, and they might even experience weight loss. Protein deficiencies and vitamin deficiencies are common as well.

To diagnose biliary atresia, doctors perform a physical examination to check for signs of jaundice. They will gently feel the liver and spleen to check for enlargement and if these organs feel harder than normal. Patients will have blood tests, and an abdominal ultrasound, HIDA scan, and liver biopsy may be recommended. A surgical intervention known as the Kasai procedure is the preferred treatment method for biliary atresia. If successful, the operation could restore normal or near-normal bile flow. However, some patients might still need to have a liver transplant to completely cure the condition.

Improper Development

Fetal (embryonic) biliary atresia is the less common form of the condition, and it accounts for between ten to thirty-five percent of all diagnosed cases of biliary atresia. Unlike other forms of the condition, patients with fetal biliary atresia frequently present with jaundice at birth and display improper development of organs such as the heart, spleen, and intestines. 

The development of major blood vessels might also be abnormal. While the baby is still in the womb, doctors might notice the improper development of the baby's heart and other organs during routine prenatal ultrasound scans. The organ development will be monitored at regular visits, and the mother may be referred to specialists for further advice and testing. If fetal biliary atresia is confirmed, surgery will likely be recommended shortly after birth.