Main Campus: Chesterfield, MO 63017 | 
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 .
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...
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.
Bilirubin
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...
Symptoms
The newborn may have:
- Yellow skin (jaundice)
- Yellow eyes (icterus)
-
Lethargy
Lethargy
Fatigue is a feeling of weariness, tiredness, or lack of energy.
Read Article Now Book Mark Article
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.
Phototherapy
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. ...
Exchange transfusion
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...
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, 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.
Prevention
Phototherapy can help prevent serious complications of this disorder.
References
Berk PD, Korenblat KM. Approach to the patient with jaundice or abnormal liver tests. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 147.
LIdofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger & Fordtran's Gastrointestinal and Liver Disease . 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 21.
Review Date: 8/1/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
