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.
Atrium Health Concierge Care Lake Norman
Christopher Messitt is a primary care provider, practicing in Family Medicine in Cornelius, North Carolina. Dr. Messitt is rated as a Distinguished provider by MediFind in the treatment of Transient Familial Hyperbilirubinemia. His top areas of expertise are Transient Familial Hyperbilirubinemia, Thyroid Dysgenesis, Congenital Hypothyroidism, and Newborn Jaundice. Dr. Messitt is currently accepting new patients.
Texas Health Family Care
Richard Townsend is a primary care provider, practicing in General Practice in Richardson, Texas. Dr. Townsend is rated as an Advanced provider by MediFind in the treatment of Transient Familial Hyperbilirubinemia. His top areas of expertise are Vitamin D Deficiency, Gilbert Syndrome, High Cholesterol, and Nephrosclerosis.
Vinod Bhutani is a Neonatologist in Palo Alto, California. Dr. Bhutani 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.
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.
Summary: The goal of this clinical trial is to learn if modified diagnosis and treatment (MDT) of neonatal hemolysis (a common cause to newborn jaundice) incorporated with ETCOc measurement (a non-invasive measurement of exhaled gas) works to prevent brain damage in newborns with severe hyperbilirubinemia (sNH). It will also learn about the. occurrence of cranial MRI in the study participants. The main que...
Summary: The objective of this study is to ascertain the diagnostic threshold of end-tidal carbon monoxide (ETCOc, adjusted for ambient CO levels) within the first three days postpartum, stratified by neonatal age at birth. Additionally, the study aims to evaluate the concordance of the risk range of ETCOc, as measured by non-dispersive infrared spectroscopy, with existing literature, and to assess the rel...
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. Lucey-Driscoll syndrome. rarediseases.info.nih.gov/diseases/2791/transient-familial-neonatal-hyperbilirubinemia. Updated September 2025. Accessed October 15, 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.