About familial jaundice

What is familial jaundice?

Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis). Individuals with Gilbert syndrome have elevated levels of bilirubin (hyperbilirubinemia), because they have a reduced level of a specific liver enzyme required for elimination of bilirubin. Most affected individuals have no symptoms (asymptomatic) or may only exhibit mild yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). Jaundice may not be apparent until adolescence. Bilirubin levels may increase following stress, exertion, dehydration alcohol consumption, fasting, and/or infection. In some individuals, jaundice may only be apparent when triggered by one of these conditions. Gilbert syndrome is inherited as an autosomal recessive trait.



What are the symptoms for familial jaundice?

To check for infant jaundice, press gently on your baby's forehead or nose. If the skin looks yellow where you pressed, it's likely your baby has mild jaundice. If your baby doesn't have jaundice, the skin color should simply look slightly lighter than its normal color for a moment.

Examine your baby in good lighting conditions, preferably in natural daylight.



What are the causes for familial jaundice?

Excess bilirubin (hyperbilirubinemia) is the main cause of jaundice. Bilirubin, which is responsible for the yellow color of jaundice, is a normal part of the pigment released from the breakdown of "used" red blood cells.

Newborns produce more bilirubin than adults do because of greater production and faster breakdown of red blood cells in the first few days of life. Normally, the liver filters bilirubin from the bloodstream and releases it into the intestinal tract. A newborn's immature liver often can't remove bilirubin quickly enough, causing an excess of bilirubin. Jaundice due to these normal newborn conditions is called physiologic jaundice, and it typically appears on the second or third day of life.

Other causes

An underlying disorder may cause infant jaundice. In these cases, jaundice often appears much earlier or much later than does the more common form of infant jaundice. Diseases or conditions that can cause jaundice include:

  • Internal bleeding (hemorrhage)
  • An infection in your baby's blood (sepsis)
  • Other viral or bacterial infections
  • An incompatibility between the mother's blood and the baby's blood
  • A liver malfunction
  • Biliary atresia, a condition in which the baby's bile ducts are blocked or scarred
  • An enzyme deficiency
  • An abnormality of your baby's red blood cells that causes them to break down rapidly



What are the treatments for familial jaundice?

Mild infant jaundice often disappears on its own within two or three weeks. For moderate or severe jaundice, your baby may need to stay longer in the newborn nursery or be readmitted to the hospital.

Treatments to lower the level of bilirubin in your baby's blood may include:

  • Enhanced nutrition. To prevent weight loss, your doctor may recommend more-frequent feeding or supplementation to ensure that your baby receives adequate nutrition.
  • Light therapy (phototherapy). Your baby may be placed under a special lamp that emits light in the blue-green spectrum. The light changes the shape and structure of bilirubin molecules in such a way that they can be excreted in both the urine and stool. During treatment, your baby will wear only a diaper and protective eye patches. Light therapy may be supplemented with the use of a light-emitting pad or mattress.
  • Intravenous immunoglobulin (IVIg). Jaundice may be related to blood type differences between mother and baby. This condition results in the baby carrying antibodies from the mother that contribute to the rapid breakdown of the baby's red blood cells. Intravenous transfusion of an immunoglobulin — a blood protein that can reduce levels of antibodies — may decrease jaundice and lessen the need for an exchange transfusion, although results are not conclusive.
  • Exchange transfusion. Rarely, when severe jaundice doesn't respond to other treatments, a baby may need an exchange transfusion of blood. This involves repeatedly withdrawing small amounts of blood and replacing it with donor blood, thereby diluting the bilirubin and maternal antibodies — a procedure that's performed in a newborn intensive care unit.



What are the risk factors for familial jaundice?

Major risk factors for jaundice, particularly severe jaundice that can cause complications, include:

  • Premature birth. A baby born before 38 weeks of gestation may not be able to process bilirubin as quickly as full-term babies do. Premature babies also may feed less and have fewer bowel movements, resulting in less bilirubin eliminated through stool.
  • Significant bruising during birth. Newborns who become bruised during delivery gets bruises from the delivery may have higher levels of bilirubin from the breakdown of more red blood cells.
  • Blood type. If the mother's blood type is different from her baby's, the baby may have received antibodies through the placenta that cause abnormally rapid breakdown of red blood cells.
  • Breast-feeding. Breast-fed babies, particularly those who have difficulty nursing or getting enough nutrition from breast-feeding, are at higher risk of jaundice. Dehydration or a low caloric intake may contribute to the onset of jaundice. However, because of the benefits of breast-feeding, experts still recommend it. It's important to make sure your baby gets enough to eat and is adequately hydrated.
  • Race. Studies show that babies of East Asian ancestry have an increased risk of developing jaundice.



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