Transient familial hyperbilirubinemia is a metabolic disorder that is passed down through families. Babies with this disorder are born with severe jaundice.
Transient familial hyperbilirubinemia is an 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.
The newborn may have:
If untreated, seizures and neurologic problems (kernicterus) may develop.
Phototherapy with blue light is used to treat the high level of bilirubin. An exchange transfusion is sometimes necessary if the levels are extremely high.
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.
Death or severe brain and nervous system (neurological) problems can occur if the condition is not treated.
This problem is most often found immediately after delivery. However, call your health care provider if you notice your baby's skin turning yellow. There are other causes for jaundice in the newborn that are easily treated.
Genetic counseling can help families understand the condition, its risks of recurring, and how to care for the person.
Phototherapy can help prevent serious complications of this disorder.
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Lidofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 21.