The Liver and What It Does
What is the liver?
The liver is the largest organ in the body. It is needed to keep the body working properly. It removes poisons from the blood, makes products to control infection, and removes germs and bacteria from the blood. It makes proteins that regulate blood clotting and produces bile to help absorb fats and fat-soluble vitamins.
What are signs of infant liver disease?
In a baby there can be one or more signs that the liver is not working properly. The skin and eyes may look yellow. The abdomen may look swollen or stick out. The urine may be dark yellow or brown. The stools are often grey or white instead of green or yellow. There may also be bleeding or easy bruising. The blood might contain higher than normal levels of liver enzymes. The liver may feel large or look large on an x-ray. Babies may be slightly yellow normally, but blood testing is needed to know whether it is normal or not.
What is cholestatic jaundice?
Cholestatic jaundice is the yellowing of the whites of the eyes and skin that results when there is decreased flow of bile from the liver to the intestine. This can happen for many different reasons. It may result from a brief illness or from injury to the liver; when these are the causes it will frequently go away without any special treatment. It can be caused by a number of inherited conditions (metabolic disease) that may need treatment. It can be caused by drugs and often goes away when the drug is stopped. Cholestatic jaundice can also be the result of more serious liver diseases such as idiopathic neonatal hepatitis or biliary atresia.
How is cholestasis diagnosed?
Cholestasis is diagnosed by blood tests. Usually there is an increase in the amount of conjugated (direct) bilirubin in the blood or increased bile salts in the blood. Many other tests may be needed to identify the exact cause. This may include blood and urine tests, x-ray or ultrasound tests of the liver and bile ducts, or a liver biopsy.
What are the types of cholestatic liver disease?
These are some of the causes of cholestatic liver disease and are the focus of our studies.
Caring for a Child with Cholestatic Liver Disease
Do most insurance plans cover the treatments for cholestatic liver diseases?
Yes, they usually cover the general health needs of children with these diseases although certain specific treatments for rare diseases may not be covered.
Will my child ever grow out of this disorder?
There are some mild forms of many of the disorders that children may outgrow. However, many of the disorders are lifelong and some may even lead to the need for liver transplant. If your child has biliary atresia, some chronic liver disease is almost always present. If your child has Idiopathic Neonatal Hepatitis, 80% outgrow it. If your child has a genetic or hereditary disorder like alpha1antitrypsin deficiency, Alagille, PFIC, he/she will not outgrow the liver disease. However, several of these disorders appear to improve as children age, and with optimal care and treatment many of these children will improve greatly.
Does my child need a specialist or can my pediatrician treat this disorder?
Children with cholestatic liver diseases are usually best cared for by a specialist (pediatric hepatologist) who can work with your pediatrician to provide the best care for your child.
We live in a community where we only have access to a small community hospital. Will the medical staff be able to care for my child if he has a crisis? What should we do?
The best way for you to help your child is to seek a specialist early in the course of your child’s disease who can work with your pediatrician or family doctor.
My child has just been diagnosed with cholestatic liver disease. Will my child be able to live a normal life?
Early in the course of your child's disease it is usually not possible to predict the future with certainty. Your hepatologist will provide you with the most specific information about the future for your child depending on the cause and severity of the cholestatic liver disease.
Do children with cholestatic liver diseases need a special diet?
Children with these diseases often need special formulas which can be easily absorbed and they may require extra vitamins particularly vitamins A, D, E, and K. Children that are very ill may require tube feedings.
Can children with a cholestatic liver disease participate in regular physical activity?
The jaundice itself does not mean that your child should be excluded from regular physical activity. However, sometimes children with cholestatic liver diseases develop big spleens and should not participate in contact sports. Also, these children may have brittle bones which can easily be broken. For these reasons, it may be recommended that your child avoid contact sports.
We have a child with cholestatic liver disease. Will we be able to care for our child ourselves? Will my child be able to go to school?
Depending upon the specific cause of the cholestatic liver disease, your child may need specialized nursing care. One such example would be if he or she were to have a liver transplant. Your hepatologist will make every effort to help your child function as normally as possible, including attending school. Most children with liver disease attend school just fine.
What is the life expectancy of a child with a cholestatic liver disease?
The answer to this question depends a great deal on the exact cause of the liver disease.
How will I know if my child requires a liver transplant?
Your hepatologist will use information like your child’s physical exam, lab studies, and complications of liver disease to decide this.
Why isn't there a cure or better treatment for cholestatic liver diseases?
There are currently several treatments for the symptoms of some cholestatic liver diseases including medications to treat itching. While treatments for symptoms associated with cholestatic liver disease have improved over the years, much remains to be learned. These liver diseases are rare and, in the past, it has been difficult for pediatric liver specialists to find funding to support studies of these diseases. However, our network, ChiLDREN (Childhood Liver Disease Research and Education Network) which is supported by the National Institutes of Health, will conduct research on the causes and treatment of these diseases in order to provide new hope for children with cholestatic liver disease.
Genetics and Cholestatic Liver Disease
My child has been diagnosed with cholestatic liver disease. Are my other children at risk and should they be tested?
To the best of our knowledge, neither biliary atresia nor idiopathic neonatal hepatitis is a genetic inherited disease and your other children are not at risk. However, the genetic diseases being studied include: Alpha-1 anti-trypsin deficiency, Alagille syndrome, progressive familial intrahepatic cholestasis (PFIC), bile acid synthesis defect (BAD), and mitchondrial hepatopathies. These hereditary diseases can affect siblings.
We have a child with a cholestatic liver disease and want to have more children. Will subsequent pregnancies be affected? Is prenatal testing available?
Please talk to your hepatologist about your child’s specific disease for the most accurate answer to these questions.
Is DNA testing available and/or necessary to diagnose the disorders?
Clinical DNA testing is available for Alpha-1, Alagille syndrome, PFIC and mitochondrial hepatopathies.
Will my child pass this disease on to his/her children?
Your child would not pass biliary atresia or idiopathic neonatal hepatitis on to his/her children, but alpha1, Alagille, and PFIC can be passed on. Please talk to your pediatric liver specialist about your child’s specific disease for the most accurate answer to these questions.
Are any specific ethnic groups affected by cholestatic liver diseases?