National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lucey-Driscoll syndrome


Other Names:
Transient familial neonatal hyperbilirubinemia; Transient familial hyperbilirubinemia
Categories:
Lucey-Driscoll syndrome, also known as transient familial hyperbilirubinemia, is a rare condition that leads to very high levels of bilirubin in a newborn's blood.  Bilirubin comes from the breakdown of red blood cells and is handled by the liver. Babies with this condition may be born with jaundice, causing yellow skin, yellow eyes and excess sleepiness (lethargy). The cause of Lucey-Driscoll syndrome is thought to be due to compounds in the mother's and baby's blood that block the breakdown of bilirubin.[1] In some babies, this condition may be the result of a genetic change in the UGT1A1 gene, a risk factor for high levels of bilirubin.  The diagnosis is made based on the symptoms.  Treatment for Lucey-Driscoll syndrome includes phototherapy, placing the baby under a blue light to treat the high level of bilirubin in the blood.  Sometimes, replacing the baby's blood with different blood (exchange transfusion) is necessary.[2] If untreated, high levels of bilirubin can cause seizures, neurologic problems (kernicterus) and even death. Most babies with Lucey-Driscoll will have no additional complications after treatment.  
Last updated: 2/18/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Cerebral palsy 0100021
Jaundice
Yellow skin
Yellowing of the skin
[ more ] 		0000952
Kernicterus 0001343
Neonatal unconjugated hyperbilirubinemia 0008176
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Last updated: 7/1/2020
Lucey-Driscoll syndrome is caused by a substance in the blood that limits the ability of bilirubin to be removed by the body.[1]  This leads to the build-up of very high levels of bilirubin that may be toxic to the brain and other organs. Inherited cases may result from the pregnant woman having a gene change (mutation) in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1).[3] This gene mutation may increase the chance of a baby having Lucey-Driscoll syndrome.[4]
Last updated: 2/18/2019

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Lucey-Driscoll syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lucey-Driscoll syndrome. Click on the link to view a sample search on this topic.

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  1. Memon N, Weinberger BI, Hegyi T, Aleksunes LM,. Inherited disorders of bilirubin clearance. Pediatr Res. Mar 2016; 79(3):378-386. https://www.ncbi.nlm.nih.gov/pubmed/26595536.
  2. Diana Chambers, David Zieve. Transient familial hyperbilirubinemia. MedlinePlus. August 11, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001196.htm. Accessed 11/8/2010.
  3. Victor A. McKusick, Deborah L. Stone. Hyperbilirubinemia, transient familial neonatal, HBLRTFN. Online Mendelian Inheritance in Man (OMIM). Updated Sept 2013; http://www.ncbi.nlm.nih.gov/omim/237900.
  4. Erlinger S, Arias IM, Dhumeaux D. Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences. Gastroenterology. Jun 2014; 146(7):1625-1638. https://www.ncbi.nlm.nih.gov/pubmed/24704527.