Cholestasis

Cholestasis is a problem with the flow of bile that happens when the bile ducts are blocked or the liver has a problem producing bile. Children with cholestasis have trouble absorbing nutrients and gaining weight.

In a healthy system, bile flows through a tube called the common bile duct to the small intestine, where it helps to absorb fat. Bile also helps eliminate bilirubin, a waste product of the body’s continuous break down old red blood cells and creation of new ones.

Bile is liquid produced in the liver and excreted into the intestine. Bile consists of water, electrolytes, bile salts, bilirubin, cholesterol, and other substances that our body wants to get rid of.

• Bile salts play an important role in helping the body absorb fat.
• Bilirubin, another component of bile, is formed by the breakdown of hemoglobin. It gives bile a yellowish-greenish color.

A child develops cholestasis when bile backs up in the blood stream. When bile and bilirubin stay in the body, a child will develop jaundice

Cholestasis is a rare condition that affects about 1 in every 2,500 newborn infants. Boys and girls have the condition in roughly equal numbers. In newborns, cholestasis can be an inherited condition. The condition can affect children of any age.

Some women develop cholestasis in pregnancy. This typically occurs in the third trimester and clears up after they give 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.

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 two to four weeks

Cholestasis symptoms include:

• Jaundice, yellowish eyes and skin
• Dark yellow or brown urine
• Grey or white stools
• Swollen or extended abdomen
• Itchy skin
• Nausea or vomiting
• Slow weight gain

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

• Obstructive cholestasis, blockage of bile flow
• Hepatocellular cholestasis, a problem with the production of bile at the liver (hepatic) cell level

The following conditions increase a child’s risk of obstructive cholestasis:

• Biliary atresia, caused by blocked or damaged bile ducts
• Choledochal cysts, an inherited malformation of the bile ducts
• Alagille syndrome, an inherited condition in which a child has underdeveloped/ too few bile ducts
• Cystic fibrosis that causes thick bile and secretions that block the bile ducts

Conditions and treatments that destroy the liver cell or change its function increase a child’s risk of hepatocellular cholestasis:

• Hepatitis A, hepatitis B, or hepatitis C infection
• Certain medications and total parenteral nutrition

Your child’s doctor may order blood tests to measure the level of liver enzymes and bilirubin in your child’s blood. A high bilirubin level could indicate that not enough bile is present to carry this waste product out of the body.

Other tests to help identify the exact cause of cholestasis may include:

• Blood testing for infections and inherited genetic conditions
• Imaging tests such as a CT scan, MRI, or ultrasound
• Liver biopsy

Treatment depends on the cause. If your child has cholestasis due to medication or parenteral nutrition, the condition will clear up when those treatments are discontinued.

If cholestasis is caused by biliary atresia, your child will need surgery called Kasai portoenterostomy. This procedure restores the drainage of bile from the bile ducts directly into the intestines.

If your child has a chronic liver condition, a liver doctor will work with your family to manage the condition and keep your child’s liver as healthy as possible.

Other treatments may include:

• High-calorie diet with special type of fat and extra fat soluble-vitamins to help your child gain weight
• Medications for itchy skin

In the most severe cases, a child with cholestasis may develop cirrhosis or liver failure and need a liver transplant.

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.