Transient familial hyperbilirubinemiaLucey-Driscoll syndrome
Transient familial hyperbilirubinemia is a metabolic disorder that is passed down through families. Babies with this disorder are born with severe jaundice.
Jaundice is a yellow color of the skin, mucus membranes, or eyes. The yellow coloring comes from bilirubin, a byproduct of old red blood cells. Jau...Read Article Now Book Mark Article
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 bilirubin blood test measures the level of bilirubin in the blood. Bilirubin is a yellowish pigment found in bile, a fluid made by the liver. Bi...Read Article Now Book Mark Article
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.
Bili lights are a type of light therapy (phototherapy) that is used to treat newborn jaundice. Jaundice is a yellow coloring of the skin and eyes. ...Read Article Now Book Mark Article
Exchange transfusion is a potentially life-saving procedure that is done to counteract the effects of serious jaundice or changes in the blood due to...Read Article Now Book Mark Article
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, call 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.
Lidofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 21.
Review Date: 7/29/2019
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant 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.