Transient Familial Hyperbilirubinemia Overview
Learn About 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.
Lucey-Driscoll syndrome
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)
- Lethargy
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.
Vinod Bhutani is a Neonatologist in Palo Alto, California. Dr. Bhutani and is rated as an Elite provider by MediFind in the treatment of Transient Familial Hyperbilirubinemia. His top areas of expertise are Bilirubin Encephalopathy, Transient Familial Hyperbilirubinemia, Hemolytic Disease of the Newborn, and Jaundice.
David Stevenson is a Neonatologist and a Pediatrics provider in Palo Alto, California. Dr. Stevenson and is rated as an Elite provider by MediFind in the treatment of Transient Familial Hyperbilirubinemia. His top areas of expertise are Transient Familial Hyperbilirubinemia, Newborn Jaundice, Jaundice, and Bilirubin Encephalopathy.
Christian Hulzebos practices in Groningen, Netherlands. Hulzebos and is rated as an Elite expert by MediFind in the treatment of Transient Familial Hyperbilirubinemia. His top areas of expertise are Transient Familial Hyperbilirubinemia, Newborn Jaundice, Premature Infant, and Necrotizing Enterocolitis.
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, 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.
Phototherapy can help prevent serious complications of this disorder.
Objectives: The investigators aimed to compare the safety of implementing low-threshold, compared to high- threshold, of TSB for phototherapy interruption in term and late preterm neonates with hemolytic disease of newborn.
Objective: The primary outcome is glucose value of the neonate at birth. Secondary
Published Date: September 18, 2023
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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.