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Transient familial hyperbilirubinemia

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Alternative Names   

Lucey-Driscol syndrome

Definition    Return to top

Transient familial hyperbilirubinemia is a metabolic disorder passed down through families. Babies with this disorder are born with severe jaundice.

Causes    Return to top

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

Symptoms    Return to top

The newborn may have:

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

Exams and Tests    Return to top

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

Treatment    Return to top

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

Outlook (Prognosis)    Return to top

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.

Possible Complications    Return to top

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

When to Contact a Medical Professional    Return to top

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    Return to top

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

Update Date: 7/25/2007

Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospitalof Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.

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