Transient familial hyperbilirubinemia
Lucey-Driscoll syndrome
Transient familial hyperbilirubinemia is a metabolic disorder that is passed down through families. Babies with this disorder are born with severe jaundice.
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 if the levels are extremely high.
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
This problem is most often found immediately after delivery. However, contact 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.
Prevention
Phototherapy can help prevent serious complications of this disorder.
References
Korenblat KM. Approach to the patient with jaundice or abnormal liver tests. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 133.
National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Transient familial neonatal hyperbilirubinemia. rarediseases.info.nih.gov/diseases/2791/transient-familial-neonatal-hyperbilirubinemia. Updated January 2025. Accessed February 04, 2025.
Rosenberg WMC, Badrick T, Lo SF, Tanwar S. Liver disease. In: Rifai N, Chiu RWK, Young I, Burnham CAD, Wittwer CT, eds. Tietz Textbook of Laboratory Medicine. 7th ed. St Louis, MO: Elsevier; 2023:chap 51.
Taylor TD, Wheatley MA, Lidofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 21.
Review Date: 9/18/2023
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