What are the other Names for this Condition? (Also known as/Synonyms)

• Transient Familial Hyperbilirubinemia
• Transient Familial Neonatal Hyperbilirubinemia

What is Lucey-Driscoll Syndrome? (Definition/Background Information)

• 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. If untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death
• 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. 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.
• Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene (UGT1A1). Different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition
• 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

(Source: Lucey-Driscoll Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Lucey-Driscoll Syndrome? (Age and Sex Distribution)

• Lucey-Driscoll Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Lucey-Driscoll Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Lucey-Driscoll Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Lucey-Driscoll Syndrome? (Etiology)

• Lucey-Driscoll Syndrome is caused by high levels of a bilirubin "conjugating enzyme inhibitor” (a substance that limits the ability of bilirubin to bind to an enzyme). 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

(Source: Lucey-Driscoll Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• In familial cases, mutation(s) in the UGT1A1 gene in a pregnant woman is the cause of Lucey-Driscoll Syndrome in the newborn
  • The UGT1A1 gene codes for the enzyme uridine diphosphate-glucuronosyltransferase
  • This enzyme plays a significant role in the proper disposal of bilirubin
• Many familial cases of Lucey-Driscoll Syndrome show autosomal recessive inheritance

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Lucey-Driscoll Syndrome?

The signs and symptoms of Lucey-Driscoll Syndrome may include:

• Cerebral palsy
• Jaundice
• Neonatal unconjugated hyperbilirubinemia

(Source: Lucey-Driscoll Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Lucey-Driscoll Syndrome Diagnosed?

Lucey-Driscoll Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Lucey-Driscoll Syndrome?

The complications of Lucey-Driscoll Syndrome may arise if the condition is left untreated, and can include:

• Seizures
• Kernicterus (brain damage due to accumulation of bilirubin in blood)
• Neurological abnormalities

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Lucey-Driscoll Syndrome Treated?

The treatment for Lucey-Driscoll Syndrome may include:

• Phototherapy with blue light to help breakdown excess bilirubin
• If necessary, exchange transfusion (transfusion of donor blood to replace the newborn’s blood)

How can Lucey-Driscoll Syndrome be Prevented?

Currently, Lucey-Driscoll Syndrome may not be preventable, if it is an inherited disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Lucey-Driscoll Syndrome? (Outcomes/Resolutions)

• The prognosis of Lucey-Driscoll Syndrome is good, since the condition is transient and treatable
• Without treatment, however, the condition can lead to severe neurological signs and symptoms including brain damage

Additional and Relevant Useful Information for Lucey-Driscoll Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/