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:
- Yellow skin (jaundice)
- Yellow eyes (icterus)
If untreated, seizures and neurologic problems (kernicterus) may develop.
Exams 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 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.
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.
Phototherapy can help prevent serious complications of this disorder.
Cappellini MD, Lo SF, Swinkels DW. Hemoglobin, iron, bilirubin. In: Rifai N, ed. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 6th ed. St Louis, MO: Elsevier; 2018:chap 38.
Korenblat KM, Berk PD. Approach to the patient with jaundice or abnormal liver tests. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 138.
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 7/30/2021
Updated 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 Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.