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Transient Familial Hyperbilirubinemia

Definition:

Transient familial hyperbilirubinemia is an inherited metabolic disorder. Babies with this disorder are born with severe jaundice.



Alternative Names: Lucey-Driscol syndrome

Causes, incidence, and risk factors:

Transient familial hyperbilirubinemia is thought to be an autosomal recessive inherited disorder.�It occurs when the body does not properly�break down (metabolize) bilirubin. Bilirubin levels�rapidly build up in the body. These high levels are�poisonous to the brain and can cause death.



Symptoms:

The newborn may have:

  • Yellow skin (jaundice)
  • Yellow eyes (icterus)
  • Lethargy

If untreated, seizures and neurologic problems (kernicterus) may develop.



Signs and tests:

Blood tests for bilirubin levels can identify the severity of the jaundice.



Treatment:

Phototherapy with blue light is used to treat the high level of bilirubin. An exchange transfusion is sometimes necessary.



Support Groups:



Expectations (prognosis):

Babies who are treated can have a good outcome.�If the condition is not treated, severe complications develop. This disorder tends to improve with time.



Complications:

Death or severe neurological deficits can occur if the condition is not treated.



Calling your health care provider:

Although this problem would most likely be noted immediately after delivery, call your doctor if you notice your baby's skin turning yellow. There are other causes for jaundice in the newborn that are easily treated.



Prevention:

Phototherapy can significantly prevent the potentially serious complications of this disorder.




Review Date: 8/8/2005
Reviewed By: A.D.A.M. editorial and Christos Ballas, M.D., Attending Psychiatrist, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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