What is cholestasis?

Cholestasis is a problem with the flow of bile. It is caused by a blockage of the bile ducts or a problem producing bile. Bile plays an important role in helping the body digest food. It also carries bilirubin, a waste product, out of the body. When bilirubin backs up in the blood stream, a child can develop jaundice. Cholestasis can also interfere with a child’s ability to absorb nutrients and cause slow weight gain.

Cholestasis is a rare condition that affects approximately 1 in every 2,500 newborns infants. Boys and girls have the condition in roughly equal numbers. Newborns and infants are at highest risk, though the condition can affect children of any age.

The majority of children with cholestasis are born with the condition. In older children, it can be caused by infection and certain medications or drug use.

Some women develop cholestasis in pregnancy. This typically occurs in the third trimester and clears up after giving birth. Cholestasis in pregnancy does not increase a baby’s risk of being born with the condition, however, it does increase the risk of premature birth.

What is bile?

Bile is an important fluid produced by the liver and stored in the gallbladder. In a healthy system, bile flows through a tube called the common bile duct to the small intestine, where it helps to digest food. Bile also helps eliminate bilirubin, a waste product of the body’s continuous break down old red blood cells and creation of new ones.

What are the symptoms of cholestasis liver disease?

If a baby is born with cholestasis, they will start having symptoms within their first two weeks. Cholestasis symptoms include:

  • jaundice, yellowish skin or eyes
  • dark yellow or brown urine
  • grey or white stools
  • swollen or extended abdomen
  • itchy skin
  • nausea or vomiting
  • slow weight gain

What causes cholestasis?

There are two types of cholestasis that affect infants and children:

  • obstructive, blockage of bile flow
  • hepatocellular, a problem with the production of bile

Obstructive cholestasis is typically caused by a gene mutation or a problem with the liver that develops before a child is born. These include:

Hepatocellular cholestasis can be caused by disease or other factors, typically after a child is born. These include:

Are some children at greater risk for cholestasis?

Certain things can increase a child’s risk for developing cholestasis, including:

  • premature birth, being born before 37 weeks of pregnancy
  • short bowel syndrome, loss of a functioning small intestine
  • receiving parenteral nutrition, food delivered through a vein, for more than 2 to 4 weeks

How we care for cholestasis

The Center for Childhood Liver Disease at Boston Children’s Hospital takes a multidisciplinary approach to diagnosing and treating cholestasis. Our multidisciplinary team specializes in helping infants, children, adolescents and young adults who have a wide variety of liver, gallbladder and bile duct disorders. At every step, our specialists endeavor to provide compassionate care that respects the values of each family and addresses their hopes and concerns for their child’s present and future health. Doctors refer children with liver disease to our program from all over the world.