Frequently Asked Questions

What is the liver?  What does it do?  How does it work?
The liver is the largest organ in the body and it is located in the upper right part of the abdomen. It is essential in keeping the body functioning properly. It removes or neutralizes poisons from the blood, processes and stores nutrients, aids in absorption of food from the intestine, helps 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. You cannot live without a functioning liver.(Ref: NIDDK, http://digestive.niddk.nih.gov/ddiseases/pubs/cirrhosis/index.htm)

What is cholestasis?
Cholestasis is a condition in which bile is not flowing properly from the liver to the intestines. Cholestasis is caused by a number of specific diseases.

What are the symptoms of cholestasis?
Jaundice (yellow eyes or skin) is a symptom of cholestatis and is caused by a build-up of bile in the liver and the body.  Jaundice can be caused by other problems and can be mild and can come and go.  So it is not specific for cholestasis, but is frequently present.  Itching (pruritus) is one of the main symptom of cholestasis in many patients.  The build up of bile in the body causes the itching. Young infants who are unable to scratch may be irritable, fretful or sleep poorly.  Some children with cholestasis will experience poor growth because of poor intestinal absorption of food.  Others may have symptoms of vitamin deficiency, since bile in the intestines is important for the absorption of fat-soluble vitamins from the diet.  These symptoms may include bruising or bleeding, bone pain or fractures and problems with balance and muscle coordination.

How is cholestasis diagnosed?
Cholestasis is diagnosed by blood tests.  Usually there is an elevation of conjugated (direct) bilirubin in the blood or elevated bile salts in the blood.  To determine the cause of the cholestasis may involve a number of other blood and urine tests, x-ray or ultrasound (sound wave) tests of the liver and bile ducts, or a liver biopsy.

Does my child need a specialist or can my pediatrician treat this disorder?
Cholestasis and the diseases that cause it can be very serious and are potentially fatal if not properly treated.  They can severely affect a child’s normal growth and development and can lead to cirrhosis (scarring) of the liver, requiring liver transplantation for survival.  Your children’s primary care physician (pediatrician) plays an important role in caring for your child, but will need to work together with a pediatric liver specialist (hepatologist) to properly treat your child.

My child has been diagnosed with a cholestatic liver disease.  Are my other children at risk and should they be tested?
The five diseases being studied by CLiC are all “genetic” causes of cholestasis, meaning the genes that caused the disease were passed from the parents to the child at birth. In order to develop these diseases, a child must receive two genes for the disease – one from each parent. If a child is diagnosed with a genetic cause of cholestasis other children in the family may be at risk and a discussion with your physician regarding genetic testing of other family members would be important.

We have had a child with a cholestatic liver disease and want to have more children. Will subsequent pregnancies be affected?  Is prenatal testing available?
The five diseases being studied by CLiC are all “genetic” causes of cholestasis, meaning the genes that caused the disease were passed from the parents to the child at birth. In order to develop these diseases, a child must receive two genes for the disease – one from each parent. Prenatal testing is available for many disorders. Whether the risks and benefits of prenatal testing are appropriate are different for each disease and family and should be discussed with your physician.

Will my child pass this disease on to his/her children?
The five diseases being studied by CLiC are all “genetic” causes of cholestasis, meaning the genes that caused the disease were passed from the parents to the child at birth. In order to develop these diseases, a child must receive two genes for the disease – one from each parent. If your child has children with another person who has a cholestatic liver disease, it is possible that each parent will pass a gene for liver disease to the baby. This means the baby could also have a cholestatic liver disease. But if your child has children with someone who does not have a cholestatic liver disease, it is possible that the baby will only receive one gene for the disease and will not show any signs or symptoms of disease.  These people are known as “carriers” since they carry one gene for a disease but are not affected by it.

My child has just been diagnosed with a cholestatic liver disease.  Will my child be able to live a normal life?
Cholestatic liver diseases can be very serious and can severely affect a child’s normal growth and development if not properly treated.  But with proper care and treatment many children with cholestatic liver disease do very well. Each patient with cholestatic liver disease needs to have his/her care customized, but with proper care and treatment many of these children can grow and develop normally.

Do children with cholestatic liver diseases need a special diet?  Can they participate in regular physical activity?
In general, children with cholestatic liver disease need to maintain adequate nutrition. They may require specialized diets or dietary supplements to maximize fat absorption and to provide adequate calories for optimal growth and development. Physical activity is encouraged for all children with cholestatic liver disease. Vitamin deficiencies may make children with cholestatic liver disease more prone to injuries. Before embarking on any strenuous physical activity, children with liver disease should be evaluated by a physician and an appropriate activity level determined.

What is the life expectancy of a child with a cholestatic liver disease?
There are many factors that determine life expectancy. To optimize life expectancy requires attention to providing adequate care and treatment.

Will my child ever grow out of this disorder?
Since these disorders are hereditary or genetic, the child will not outgrow his/her disorder. However, several of these disorders appear to improve as children age, and with optimal care and treatment many of these children will improve greatly.

We live in a community where we only have access to a small community hospital. Will they be able to care for my child if he has a crisis?  What should we do?
While many small community hospitals do not have access to all the latest in sophisticated tests and procedures available at large medical centers, most community hospitals have contacts with these specialized centers. It would be appropriate to discuss with your child’s medical providers before a crisis develops a plan that you can be sure is in your child’s medical records and a copy you can carry with you so this can be provided should a crisis occur.

Why isn’t there a cure or better treatment for cholestatic liver diseases?
Many of these disorders have only recently been discovered. With advances in research our understanding of these diseases is improving. Studies such as CLiC have the ability to investigate cures and better treatment of cholestatic liver diseases and should provide important answers to the questions to provide new and improved therapies.

Are any specific ethnic groups affected by cholestatic liver diseases?
Cholestatic liver diseases affect all ethnic groups.

Do most insurance plans cover the treatments for cholestatic liver diseases?
Insurance plans in general cover treatments for cholestatic liver disease. Often insurance companies do not cover experimental or research protocols. It is important to know what your insurance carrier does and does not cover for different illnesses.

We have a child with a cholestatic liver disease.  Will we be able to care for our child ourselves?  Will my child be able to go to school?
Most children with cholestatic liver disease live at home and are able to attend school with proper care and treatment. That is why it is very important to follow the directions provided for your child regarding medications, diet, vitamins, laboratory testing and doctor visits.

Updated: November 2005

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