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Genetic and Rare Diseases Information Center (GARD)

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Lucey-Driscoll syndrome

Other Names for this Disease
  • Transient familial hyperbilirubinemia
  • Transient familial neonatal hyperbilirubinemia
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Your Question

What distinguishes Lucey-Driscoll syndrome from other causes of jaundice?  Is this condition hereditary?

Our Answer

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What is Lucey-Driscoll syndrome?

Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  If untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. Treatment for Lucey-Driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary.[1] Different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition.
Last updated: 11/15/2010

What causes Lucey-Driscoll syndrome?

Lucey-Driscoll syndrome is caused by high levels of a bilirubin "conjugating enzyme inhibitor” which is a substance that limits the ability of bilirubin to bind to an enzyme.[2] When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur in the blood (serum) of pregnant women, and it likely blocks the enzyme activity necessary for the development of the fetal liver.[3]  Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1).[4]
Last updated: 11/16/2010

What is jaundice?

Jaundice is the most common condition that requires medical attention in newborns.  Jaundice is seen in approximately 60% of full-term infants and more frequently in near-term infants.[2] It results from having too much of a substance called bilirubin in the blood. Bilirubin is formed when the body breaks down old red blood cells. The liver usually processes and removes the bilirubin from the blood.  Jaundice in babies usually occurs because their immature livers are not efficient at removing bilirubin from the bloodstream.[5]  The yellow coloration of the skin and eyes (sclera) in newborns with jaundice is the result of accumulation of unconjugated bilirubin, which is called unconjugated hyperbilirubinemia. In most infants, jaundice reflects a normal process in the maturing of the liver. However, in some infants, bilirubin levels may excessively rise, which can be cause for concern because unconjugated bilirubin is neurotoxic and can cause death or lifelong neurologic problems (kernicterus).[6]

Neonatal hyperbilirubinemia may last for a short period of time (transient) or it may occur over a prolonged period of time. It may occur in only one person in a family (isolated) or it may develop in multiple family members (familial). Neonatal hyperbilirubinemia ranges from mild to severe and may have a variety of causes.
Last updated: 11/15/2010

What distinguishes Lucey-Driscoll syndrome from other types of jaundice?

Lucey-Driscoll syndrome may be considered when a newborn has severe jaundice that occurs for a short period of time (transient), and the more common causes of jaundice have been ruled out. It is also considered when other individuals in the family have had a similar condition or have been diagnosed with Lucey-Driscoll syndrome.
Last updated: 11/15/2010