About Pediatric Liver Disease

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Liver disease in infants: a guide to early warning signs

Adapted from an article by Dr Helen Evans, for IDFNZ INTOUCH, Feb 2014.

Introduction

Liver disease is rare in newborn babies. Nevertheless, around 1 baby is born in New Zealand every month with a serious liver disease. Often the signs and symptoms are subtle or non-specific and it can take a while for parents and health care professionals in the community to recognize that the baby has liver disease. This is a guide to the early warning signs of liver disease in babies.

There are many different causes of liver disease in babies. Some of these are extremely rare while others, such as biliary atresia, are commoner. Each of the different causes of liver disease may have specific signs and symptoms related to that particular disease and it is not possible to mention all of them in one guide. However, there are some general features which are common in most babies with liver disease and it is these that I will focus on.

It is also important to remember that parents know their babies best. If you have any concerns about your baby’s health, then you should contact your midwife or GP. Sometimes, a straightforward blood test, usually done as a heel prick is enough to tell doctors whether or not to worry about liver disease

 Jaundice

Jaundice is a yellow colour to the eyes, skin and even the hair. It can range from subtle to very obvious. Sometimes it can be difficult to see in babies’ skin but is usually easier to see in the whites of the eyes.

Jaundice on the first day of the life is rare. Babies with jaundice on day one should be seen by a doctor. Common causes include incompatibility between the blood of the baby and his or her mother, and also infections. As babies are usually seen by a doctor prior to discharge from hospital, the jaundice is usually noticed. However, for babies born at home or discharged early, it is important that mothers let their midwife or doctor know if their baby becomes jaundiced on this first day.

It is very common for babies to have jaundice in the first 2 weeks of life. We call this physiological jaundice. Sometimes the baby needs to undergo light therapy known as phototherapy. Usually physiological jaundice is short-lived and has no long-term effects on a baby’s health. It is important to know that physiological jaundice is not due to liver disease.

Occasionally, jaundice will last longer than 2 weeks and this is commoner if babies who are breast fed. No-one really knows why breast-fed babies become jaundiced but, again, this is harmless and has no long-term effects. Breast-milk jaundice goes away once breast feeding is stopped. However, there is no need to stop breast feeding as long as the baby has been checked by a doctor and no serious cause of liver disease found.

Jaundice after the first 2 weeks of life should always be checked out. However, there is no need to wait 2 weeks if you are worried about your baby before this time. In particular, if your baby has any of the problems listed below, I would encourage you to take him or her to your doctor earlier than 2 weeks of age.

Jaundice is due to high levels of a waste substance called bilirubin. There are 2 types of bilirubin: unconjugated and conjugated. A simple blood test will tell whether your baby has high levels of unconjugated or conjugated bilirubin. Unfortunately, the laboratory will often only look at the total bilirubin level which then does not help tell between the 2 types of bilirubin. The test which does distinguish between them is a split bilirubin test. It is the conjugated bilirubin which is high in liver disease and any baby with a high conjugated bilirubin level should be referred urgently to a paediatrician (a doctor specialising in child health). Conjugated bilirubin levels are normal in babies with physiological or breast-milk jaundice and so it is easy to distinguish between which babies need referral to hospital and investigations for liver disease and which do not.

Pale stools (poo)

Normal baby stools (poo) range from yellow to green to brown. Any other colour is not normal. Baby poo is yellow, green or brown because bile, the waste product of the liver, comes into the intestine and mixes with the digested milk. Bile is a dark green colour so when it mixes with the digested milk, the result is a liquid which is yellow, green or brown. As this liquid moves along the intestine, water is reabsorbed and the poo becomes more solid.

In liver disease, the stool may be especially pale, for example white, cream or a very pale yellow. This happens for 2 reasons. Firstly, there may be a blockage meaning that bile cannot get out of the liver and so the poo resembles just digested milk – a creamy colour. In addition, bile contains useful substances which help babies absorb the fats in their milk. If there is not enough bile being made, the fats may not be absorbed well leading to too much fat in the poo. Fat in poo gives it a pale, loose, greasy look and it may smell worse than a normal baby poo.

When doctors and nurses see pale poo, we worry about the disease biliary atresia. In this disease, there are no bile ducts (tubes) carrying the bile from the liver to the intestine. This means bile is trapped in the liver leading to liver damage. The reason we worry about this disease is that there is an operation (a Kasai procedure) which can help make the bile drain into the intestine. However, this operation needs to be performed as early in life as possible if it is to be successful.

Not all babies with pale poo have biliary atresia but because this is the commonest liver disease in babies, we always need to test for it when we see a baby with pale poo. Other liver diseases where the poo may be pale include alpha-1-antitrypsin deficiency, Alagille syndrome and Progressive Familial Intrahepatic Cholestasis.

Sometimes parents find it difficult to describe the colour of their baby’s poo and of course, it can be different at each nappy change! Take a dirty nappy along with you when you see the midwife or doctor to show them. They will be able to tell whether there is enough colour in the poo or not.

Dark urine

Usually, the urine (wee/pee) of a newborn baby is colourless. It should look like water. When it soaks into the lining of the nappy, you should not be able to see any colour. However, when a baby becomes jaundiced with a high level of conjugated bilirubin, the bilirubin can come out in the urine. The urine then looks yellow or brown. This can easily be seen in the nappy.

It is not normal for a baby’s urine to be yellow or brown so, again, take your baby along to see your doctor and take a wet nappy along with you.

Itching

When babies are jaundiced, the bilirubin (yellow colour) in their skin makes them itch. This is commoner in older babies who have more advanced liver disease. However, in both Alagille syndrome and Progressive Familial Intrahepatic Cholestasis (PFIC), the itch may be especially severe and can occur very early in life. Sometimes these babies itch even when their skin is only mildly jaundiced or not jaundiced at all. Severe itching without much jaundice always makes us think of these 2 diseases.

Alagille syndrome is a disease which can affect several parts of the body. For example, sometimes the baby also has a heart murmur and they may have a harmless extra membrane at the back of their eye and an unusual but harmless shape to the bones in their spine. None of these things can be seen from the outside and need special tests at the hospital to look for them. In addition, some children with Alagille syndrome have a characteristic facial appearance. This is often difficult for parents to notice as usually the baby also looks like their parents of course. It is also difficult to doctors and nurses in the community to recognise as they may never have seen it before because Alagille syndrome is rare. However, doctors at the hospital may recognise these features more easily and will sometimes take photographs of your baby for future reference.

PFIC is a complicated group of diseases. There are several types and, as they are all rare, I will not go into them in any detail. However, PFIC type 1 can involve other parts of the body. Frequently these babies have diarrhoea which can become quite severe. Therefore any baby with jaundice, diarrhoea and itching should be seen by a specialist paediatrician.

Poor weight gain

Babies with liver disease often have difficulty putting on weight. This can occur for many reasons. In some liver diseases, especially Alagille syndrome, the baby may already be small at birth. In addition, babies with liver disease are often losing fat into their poo (as described above) and their metabolic rate is higher. These two facts mean that they need more calories than other babies. So, you may notice that your baby is feeding well and yet not gaining enough weight. In addition to all of this, some babies with liver disease lose their appetite. This is commoner as they become older. If their liver and spleen become large, then their stomach may be a little compressed so that they feel full easily and take only a small volume of feed. Also, children with liver disease may vomit more easily than other children. If you are worried about your baby’s growth in any way then this is always a reason to consult with your GP, midwife or Plunket nurse

Bleeding

The liver performs all sorts of important functions but one of these is making substances which help the blood clot. These substances need vitamin K to work properly. Vitamin K is absorbed from milk but there is less vitamin K in breast milk than cows’ milk. If your baby has bleeding, this can be a sign that they have a problem with their liver. It is unusual for babies to have bleeding so if you notice blood in the nappy or from the nose or mouth, you should consult a doctor urgently. Equally, bruising in babies is also uncommon and should be taken seriously. It is because of this risk of bleeding that babies with liver disease usually receive vitamin K supplements

Summary

BEWARE YELLOW

Paediatric Liver Disease is clearly an important group of diseases which affect precious New Zealand babies each year. These children are an important part of the IDFNZ KIDS Foundation youth patient membership.  Left undiagnosed liver disease is fatal. The BEWARE YELLOW message has been developed to communicate the importance of early warning signs to both parents and medical professionals. Help us spread the word , feel free to download these free posters and fliers .




Beware Yellow poster for medical professionals

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Beware yellow poster for parents

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