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Biliary Atresia

Biliary Atresia. Here is your classic very yellow little baby; great big belly, obviously jaundiced, obviously has ascites. You can probably sense that the little arms and legs are kind of skinny biliary atresia, bile duct shrinkage. Sleepy, sick-looking child. This little girl had biliary atresia and was awaiting transplant at the time.

Which brings us to the most common cause of obstructive jaundice beyond the neonatal period, which is biliary atresia. It occurs about 1:10,000, maybe up to 1:14,000. It presents, generally speaking, in full term babies and it’s a conjugated hyperbilirubinemia occurring within the first four weeks of life. And I really can’t stress this enough. It is truly amazing to me that many of the children that we eventually see.

The reason being is that people will do a total bilirubin as a screening test, and will not - after the first two weeks of life - bother to fractionate it. If there is only one thing that you get out of this afternoon’s talk, if you see a child after two weeks of age that’s yellow, you must get a fractionated bilirubin because otherwise you are going to miss children with conjugated hyperbilirubinemia that have biliary atresia who could potentially have procedures that would gain them a considerable amount of life expectancy.

In the classic form, there is complete atresia of the external biliary system, leads on to fibrosis, eventually cirrhosis and all the ravages of end-stage liver disease. Now without that biliary drainage procedure, which is what you want to do before two months of age, these children will inevitably die within the first one or two years of life. As I’ve said, early diagnosis is essential. I’ve already made the big point about conjugated hyperbilirubinemia.

Kasai procedure, and you do it at the right time - less than three months of age - you are generally going to buy some time for that child. If the diagnosis is late and you start trying to do these drainage procedures beyond three months of age, less than a quarter of those children will have any benefit at all from the surgery. And they follow a progressive downhill course. Even with biliary drainage performed at a good time, eventually about three-quarters of the children with biliary atresia will eventually require a new liver.

And the progression of this disease is highly variable. Interestingly, even when you do do the biliary drainage procedure, the cirrhosis problem can continue to develop as the child gets older and they may present to you perhaps at 11 or 12-years-of-age without jaundice but with portal hypertension and bleeding. This is because of the cirrhosis. The biliary drainage procedures worked but the cirrhosis is ongoing. What tells you that the biliary drainage procedure has failed? Well, the first thing that is the tip-off is that these children get recurrent cholangitis.

Intrahepatic biliary atresia. Much less common, but certainly a very identifiable problem is when you don’t have enough bile ducts inside your liver; paucity of the intrahepatic biliary system. We are now beginning to understand that this is again a spectrum of disease, some of which we’ve even identified the genetic etiology. In the classic syndrome, it forms so-called Alagille syndrome. This is a spectrum, or a syndrome with a number of manifestations.

Okay, what other things cause obstructive jaundice in the neonatal period? Well there’s the gallbladder. Now we are going to run through a few gallbladder-type diseases. Well, first of all, choledochal cysts. This is another thing you just don’t want to miss. Typically it presents in the somewhat older child, often a girl, school aged, and there is the so-called classic triad of an abdominal mass, right upper quadrant pain and intermittent jaundice. Well, that’s what the textbook says but of course you can see choledochal cysts present in infancy and you can see it missed as a diagnosis, presenting in adulthood. If they are jaundiced, again it’s going to be a conjugated hyperbilirubinemia.

In those that are missed as children, who are diagnosed as adults, one of the scary things is that if you have had that cyst sitting there for all of your life, you can actually develop cholangiocarcinoma in the cyst wall, and this is a horribly malignant disease which is often fatal, and often has already progressed far enough that you can’t help these people with transplantation or anything else.

Primary sclerosing cholangitis. What about this? Well, this is defined as a chronic inflammation and it causes this odd pattern of fibrotic narrowing and beading of the bile ducts, both inside and outside the liver. Now we really don’t know what causes primary sclerosing cholangitis. We do know that it’s associated with ulcerative colitis, and very often these children present somewhat subtly; fever, belly aches, but not always with jaundice. The liver, interestingly for chronic liver disease.