Transient familial hyperbilirubinemia
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Transient familial hyperbilirubinemia

Definition

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

Alternative Names

Lucey-Driscol syndrome

Causes

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.

Symptoms

The newborn may have:

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

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

Exams 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.

Outlook (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.

Possible Complications

Death or severe brain and nervous system (neurological) problems can occur if the condition is not treated.

When to Contact a Medical Professional

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.

Prevention

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



Review Date: 8/4/2011
Reviewed 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
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