Using a large prospective multicenter cohort (ChiLREN study group), a recent study examined 289 infants and identified three subtypes of biliary atresia (BA) enrolled in PROBE (Hepatology 2013; 58: 1724-31).

Previously, BA has been considered to have two presentations:

• Acquired/nonsyndromic ~90%
• Embryonic/syndromic ~10%

However, this study suggests the following:

• Group 1 -nonsyndromic, isolated BA. n=242 (84%)
• Group 2 -BA with major malformation but without laterality defect. n=17 (6%)
• Group 3 -syndromic, with laterality defect. n=30 (10%)

Group 3 BA defects included splenic abnormalities (eg. asplenia, polysplenia, right-sided spleen), cardiovascular anomalies (eg. dextrocardia, TAPVR, interrupted IVC) and gastrointestinal anomalies (eg. “abdominal heterotaxy,” malrotation, annular pancreas).

In contrast, Group 2 BA had frequent genitourinary problems (cystic kidney and hydronephrosis) along with different cardiovascular anomalies and gastrointestinal anomalies which included esophageal/duodenal/jejunal atresia and imperforate anus.

Other points:

• The frequency of cardiac problems is particularly important to recognize as this could make differentiation from Alagille syndrome more difficult.
• One other interesting finding was the high incidence of autoimmunity in first-degree relatives of all BA groups (~44%).

Bottomline: there are at least 3 subtypes of BA.

Related posts:

• Working on biomarkers for Biliary Atresia | gutsandgrowth
• Outcomes of Biliary Atresia | gutsandgrowth
• Biliary Atresia More Common in Preterm Infants | gutsandgrowth
• Diagnosing biliary atresia earlier | gutsandgrowth
• Learning a lot from ChiLDREN (part 1) | gutsandgrowth