Transient familial hyperbilirubinemia

Definition

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

Alternative Names

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) 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

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.

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.