What Is Low Gamma-GT Intrahepatic Cholestasis?

Low gamma-GT intrahepatic cholestasis is a rare liver disease that usually shows up in children. It happens when a fluid that delivers nutrients and carries away wastes doesn't flow properly through the liver. Your doctor can suggest treatments that slow down liver damage and help manage your child's symptoms, like severe itchiness.

How It Affects Your Child's Liver

The liver is a large organ that's part of your digestive system. It breaks down your food so your body can turn it into energy. It sits just below your lungs on the right side of your body.

The liver uses a liquid called bile to break down fats. Bile travels through the liver in channels called bile ducts, which carry those fats to the small intestine. The liver also stores vitamins, minerals, and sugars for your body to use later, and it sends waste to your kidneys, which filters it out of your blood.

Sometimes, a child's liver forms in such a way that the ducts don't allow enough bile to pass through them, or the liver doesn't make enough bile to begin with. The result can be low gamma-GT intrahepatic cholestasis, which causes bile to build up in liver cells and damage the organ.

What Causes Low Gamma-GT Intrahepatic Cholestasis?

The disease can be passed down in families that carry a specific gene -- a set of instructions that tell your body's cells how to reproduce. If your child has the disorder, a gene that helps form the liver carries faulty instructions.

When that happens, bile can't flow through your child's liver, leading to a condition called cholestasis. One of the signs is that his body doesn't make enough of a chemical called gamma-glutamyl transferase, or gamma-GT for short, that helps digestion.

The condition is also known as "benign recurrent intrahepatic cholestasis" (BRIC) or "progressive familial intrahepatic cholestasis" (PFIC). It happens to about 1 in every 50,000 to 100,000 children.

Symptoms

The symptoms usually start showing up when your baby is about 3 months old, though sometimes they might not appear for several years.

Continued

The most common problem that kids with the disease have is frequent itching. It can keep your baby from sleeping and cause your older child to scratch until the skin bleeds. The itching can be especially bad around the ears and eyes.

Other symptoms your child may get are:

  • Jaundice, which causes the skin and the whites of the eyes to look yellow
  • Diarrhea or pale, greasy stool
  • Dark-colored urine
  • Discolored teeth
  • Vitamin deficiencies, especially the vitamins A, D, E, and K
  • Delayed growth
  • Gallstones, which happen when solid particles block a bile duct

Diagnosis

If your doctor suspects a liver problem in your child, you'll probably get referred to a specialist who knows about liver ailments in children. She'll do a physical exam of your child and ask you about your family history.

Your child will likely get a series of blood tests to figure out how well his liver is working. The tests measure how much gamma-GT, salts from bile, and bilirubin -- an orange-yellow substance that's made when red blood cells break down -- is in the blood. Those results can give doctors clues to what's wrong.

Other tests your child may get are:

  • Imaging tests such as X-rays, CT scan, or MRI, to look for signs that bile isn't flowing right
  • Biopsy (doctor removes a small piece of the liver to look for signs of damage)
  • Tests that look for signs of other liver diseases in order to rule them out
  • Tests to check for genes that can cause this condition

If the tests suggest your child has low gamma-GT intrahepatic cholestasis, you and the doctor will sit down and discuss how to treat this illness.

Treatment

In severe cases, the disease causes scar tissue to grow on the liver, a condition called cirrhosis.

There's no single treatment for low gamma-GT intrahepatic cholestasis, but there are a variety of steps that can ease the symptoms and slow down the liver damage that happens as the condition goes on.

  • Small children may get special formula that has a form of fat that's easier for the body to absorb.
  • Drugs that ease symptoms like long-term itching
  • Vitamin supplements that help replace nutrients the liver doesn't store on its own

Continued

Your doctor may suggest surgery to ease symptoms and slow down the disease. In one procedure, doctors use a short section of intestine to make a new duct to let bile drain out of your child's body through an opening in the skin on the belly, called a stoma. This type of surgery, called an external biliary diversion, can work in kids who don't have cirrhosis.

In another procedure, a surgeon bypasses a section of the intestine where bile salts get absorbed back into the body and routes it to the colon, the last section of your intestines. This method is called an internal ileal exclusion.

Liver Transplant

Some children get cirrhosis by age 10 or older and may be more likely to get liver cancer. If this happens, your doctor may suggest a liver transplant.

A successful transplant can greatly ease the symptoms and complications of low gamma-GT intrahepatic cholestasis. However, there can be a long wait for a liver to become available. After surgery, your child will need to take drugs to keep the body from rejecting the new organ.

WebMD Medical Reference Reviewed by Dan Brennan, MD on February 12, 2018

Sources

SOURCES:

National Organization for Rare Disorders: "Low Gamma-GT Familial Intrahepatic Cholestasis."

National Institute of Diabetes and Digestive and Kidney Diseases: "The Digestive System & How it Works."

National Library of Medicine: "How does the liver work?"

National Library of Medicine, Genetics Home Reference: "Progressive familial intrahepatic cholestasis."

Children's Liver Disease Foundation: "Progressive Familial Intrahepatic Cholestasis."

Childhood Liver Disease Research Network: "What is Progressive Familial Intrahepatic Cholestasis (PFIC)?"

Cincinnati Children's Health Center: "Progressive Familial Intrahepatic Cholestasis."

California Pacific Medical Center: "MELD and the Waiting List for Liver Transplant."

© 2018 WebMD, LLC. All rights reserved.

Pagination