Early detection of liver disease in infants is key to giving them the best chance at a healthy life. Babies born with liver disease often seem normal at first, but signs of an underlying problem appear within the first month. If left undiagnosed, some babies experience liver failure. According to the National Institutes of Health, biliary atresia, a liver disease occurring in 1 in 10,000 to 15,000 live births, is the leading cause of liver transplant in children. Since undiagnosed liver disease can lead to such poor outcomes for babies, it's important for parents to learn the signs of liver problems in babies.
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Jaundice refers to yellowing of the skin and eyes. Many healthy newborns experience jaundice. The Children’s Liver Disease Foundation states that 90 percent of all newborns develop some degree of jaundice within the first two to three days of life but it usually resolves within the first two weeks. Jaundice that persists beyond two weeks is worrisome. A simple blood test, known as a bilirubin test, can determine if prolonged jaundice is due to an underlying liver problem. Bilirubin is a waste product normally cleared by the liver and levels rise in the bloodstream when the liver doesn’t work properly. The Children’s Liver Disease Foundation recommends that any baby with jaundice beyond two weeks of life have a bilirubin test done to determine if underlying liver disease is present.
Light-colored, gray or clay-colored stools, referred to as acholic stools, are an indication of a liver problem in infants. Normally, babies excrete bilirubin into their digestive tract, giving their stool a yellowish color. Infants who have liver disease have abnormally formed or absent bile ducts leading from the liver into the intestines. This prevents bilirubin from getting into the digestive tract and causes the stool to appear unusually pale.
When infants are born with liver disease, damage slowly increases over the first few weeks of life. As that happens, the liver becomes enlarged. This appears as a hard swelling in the upper abdomen that can be felt on a routine physical exam.
With liver disease, fluid accumulates in the entire abdominal cavity due to a dilation of blood vessels and an imbalance of electrolytes. This swelling is known as ascites, and when it is seen in infants, underlying liver disease is always suspected.
Normal infant urine is clear to pale yellow in color. Urine appears dark in infants with liver disease because of the build-up of bilirubin in the bloodstream that filters into the urine. A urine test can be performed to detect the presence of bilirubin in the urine.