Diseases, Disorders information

Then the enterohepatic circulation, which we talked about briefly before, the most common cause of problems with enterohepatic circulation and reabsorbing too much bilirubin is breast-feeding jaundice – some people call it “early breast milk jaundice” – where there just isn’t enough breast milk getting in. What happens is that anything that causes slowing in passage of stool through the gut will lead to hyperbilirubinemia. Some of those things could be poor feeding, perhaps from neurologic problems, or if the baby has cleft lip and palate and is having difficulty with feeding, that could contribute. Vomiting, things like a partial obstruction, achalasia, those kind of problems could produce hyperbilirubinemia, or anything that causes decreased stooling. Meconium plugging would be an example of the things that could cause decreased stooling.
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Then on to decreased clearance. Still we are on indirect hyperbilirubinemia. Premature infants will have decreased conjugation by liver enzymes. They just don’t have enough liver enzymes around to handle the bilirubin load. In full term babies you actually can see it. In premature babies glucuronyl transferase deficiency. This is one that there’s no easy way to remember it. You just need to memorize this one. Crigler-Najjar is type I and that is autosomal recessive and has a poor prognosis, largely because the enzyme is completely absent. Type II glucuronyl transferase deficiency is by contrast autosomal dominant, generally fairly benign and in that one there is not an absolute loss of enzyme. It’s more just a deficiency of glucuronyl transferase. One more glucuronyl transferase deficiency is Gilbert’s, autosomal dominant and also fairly benign. An interesting problem, one that I’ve never seen but is kind of one they may ask about on the Boards, is Lucey-Driscoll which is a maternal gestational hormone that interferes with conjugation. Because this maternal factor is transient, the problem is going to be transient but can produce fairly high levels of bilirubin.
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Inborn errors of metabolism, galactosemia, tyrosinemia, can interfere with clearance and the important thing here is they may start as an unconjugated hyperbilirubinemia but can become conjugated. So they will show up on both your differential diagnosis, both for indirect hyperbilirubinemia and direct hyperbilirubinemia. There are endocrinologic problems, hypothyroidism, hypopituitarism, these two can present in the conjugated form as well. Then late-onset breast milk jaundice, in contrast to the breast-feeding jaundice, this isn’t a problem with the amount of breast milk that is there. It seems that there is an intrinsic factor in the breast milk that causes hyperbilirubinemia and again is not related to adequacy of nutrition. Generally what you will see with this late breast milk jaundice is it won’t present in the first week of life, it will present more in the second or third week of life. Another thing to note about the early breast feeding jaundice is the timing. You should see that peaking somewhere around 3-7 days. If you see a baby that is getting dramatically jaundiced in the first day or two of life, don’t call that early breast feeding jaundice. I don’t care how well the breast feeding is going in the first day or two of life, babies are not getting a lot of breast milk. So it doesn’t matter even if breast feeding is not going well, it shouldn’t contribute to markedly high bilirubin levels. I’ve seen that mistake made a number of times where people will call bilirubin that is in the mid-teens at 36 hours of life, say “Oh, that’s breast milk jaundice.” No, it’s not.
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Just a word about management of early breast feeding jaundice and later breast milk jaundice. The important thing is that there is absolutely no reason to stop breast feeding. As a matter of fact you want to kind of continue to encourage breast feeding unless they have tremendously high levels, and you want to make sure you are getting in as much as possible. All you really need to do is supplement with formula. So you can breast feed then give formula afterwards. Whether you want to give it in a bottle or syringe is up to you. But the important thing is there is no reason to stop breast feeding.