Lucey-Driscoll syndrome

Print

Disease Overview

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.[15274] 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.[2695] 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.  


Synonyms

  • Transient familial neonatal hyperbilirubinemia
  • Transient familial hyperbilirubinemia

For more information, visit GARD.

National Organization for Rare Disorders