Transient familial hyperbilirubinemia
Transient familial hyperbilirubinemia is a metabolic disorder that is passed down through families. Babies with this disorder are born with severe jaundice.
Causes, incidence, and risk factors
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:
- Yellow skin (jaundice)
- Yellow eyes (icterus)
If untreated, seizures and neurologic problems (kernicterus) may develop.
Signs and tests
Blood tests for bilirubin levels can identify the severity of the jaundice.
Phototherapy with blue light is used to treat the high level of bilirubin. An exchange transfusion is sometimes necessary.
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.
Calling your health care provider
Although this problem is usually found 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.
Genetic counseling can help families understand the condition, its risks of recurring, and how to care for the patient.
Phototherapy can help prevent the potentially serious complications of this disorder.
Last reviewed 8/4/2011 by Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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