Jeffrey Teckman, MD 

My baby was jaundice at birth and diagnosed as PiZZ, what are the risks for liver disease in my child and the chance of needing a transplant? 

It is common for ZZ babies to have prolonged jaundice at birth.  Sometimes this is just a longer version of “normal” baby jaundice.  Sometimes this is a different type of jaundice, called cholestatic jaundice, which indicates stress in the liver.  While this kind of jaundice is a concern, it needs to be monitored carefully, and is sometimes treated in various ways, it does not generally indicate the development of serious liver damage in the long run.  Monitoring of over 100 ZZ babies in Sweden showed that of the group with cholestatic jaundice, about 80% were healthy and free of any liver disease at the age of 18 years.  Studies in the United States indicated that these favorable odds of good health also apply here.  In general, the chance of needing a liver transplant in childhood for a ZZ baby is 3-5%

Can children that are PiZZ who have been healthy develop liver disease later in childhood or the teenage years?

Yes, teenage liver disease can develop in ZZ kids, although it is uncommon.  Infancy seems to be the time of greatest risk of liver damage in ZZ kids.  Most ZZ kids who need liver transplant appear to have liver damage which began as newborns. There are a few, however, who are healthy enough not to come to medical attention and are not diagnosed until later in childhood or during teenage years.  Similarly, early and middle adulthood is an uncommon time for liver damage to develop, but it is still possible.  As ZZ adults get older though, the risk of significant liver damage probably increases.  Some studies suggest that the risk of serious liver damage for the lifetime of a ZZ person could be around 50%, with most of the sickest people developing problems when they are more than 60 years old.   This is why I recommend all ZZ people be seen at least yearly by a doctor familiar with Alpha-1 liver disease, so that they can get proper monitoring for these uncommon problems. 

What does it mean if my child's liver enzymes are elevated?  What is the likelihood of it progressing to needing a liver transplant? 

“Liver enzymes” also called AST and ALT or SGOT and SGPT or “liver function tests” (LFTs) are chemical usually found inside liver cells.  They normally leak out into the blood at a slow rate and blood levels of these chemicals are usually low.  If liver cells are damaged, these chemicals leak out at a faster rate and blood levels go up.  Therefore these blood tests are a rough measure of active damage to liver cells, with higher levels indicating more damage.  However, tests are not absolute.  It is common in ZZ people for the levels to be mildly elevated when no significant damage to the liver is present.  It is also possible for there to be serious liver damage in the past leading to significant scar tissue deposition in the liver, called cirrhosis, but for these blood tests to be normal, or nearly so.  Therefore, other tests, including routine physical exams, are needed to properly monitor an Alpha-1 patient’s liver.  Mild elevations of liver enzymes, by themselves, don’t necessarily indicate that a person is in that rare group that will need liver transplants.  This is another part of the reason why I recommend that all Alpha-1 patients be seen at least yearly by a doctor familiar with Alpha-1 liver disease, so that all of the complexities of monitoring and health can be taken into account. 

What are the treatment options or paths for a child with liver disease/ cirrhosis- prior to needing a liver transplant?

This is a very complex issue, and beyond the scope of what can be done in a question and answer column.  The liver does many different jobs for the body, and when the liver gets sick, many different things can go wrong.  Sometimes only one problem crops up, sometimes many bad things happen at once.  Sometimes various drugs and vitamins can be used to limit the problems that occur, and sometimes surgery or other interventions are needed.  For any individual person, it is best to discuss their specific situation with their liver doctor.  Unfortunately, it is hard to predict what patients will need a liver transplant and when that might happen.  Many patients have serious liver damage but very few symptoms, and can do well for many years before other treatments or transplant is needed.  Careful monitoring and general good health habits are usually the best approach.