What is the definition of 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.

What are the alternative names for Transient Familial Hyperbilirubinemia?

Lucey-Driscoll syndrome

What are the causes for Transient Familial Hyperbilirubinemia?

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.

What are the symptoms for Transient Familial Hyperbilirubinemia?

The newborn may have:

  • Yellow skin (jaundice)
  • Yellow eyes (icterus)
  • Lethargy

If untreated, seizures and neurologic problems (kernicterus) may develop.

What are the current treatments for Transient Familial Hyperbilirubinemia?

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.

What is the outlook (prognosis) for Transient Familial Hyperbilirubinemia?

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.

What are the possible complications for Transient Familial Hyperbilirubinemia?

Death or severe brain and nervous system (neurological) problems can occur if the condition is not treated.

When should I contact a medical professional for Transient Familial Hyperbilirubinemia?

This problem is most often found immediately after delivery. However, call 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.

How do I prevent Transient Familial Hyperbilirubinemia?

Phototherapy can help prevent serious complications of this disorder.

REFERENCES

Cappellini MD, Lo SF, Swinkels DW. Hemoglobin, iron, bilirubin. In: Rifai N, ed. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 6th ed. St Louis, MO: Elsevier; 2018:chap 38.

Korenblat KM, Berk PD. Approach to the patient with jaundice or abnormal liver tests. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 138.

Lidofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 21.

  • Condition: Gestational Diabetes Mellitus
  • Journal: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
  • Treatment Used: Vitamin D Supplementation
  • Number of Patients: 1432
  • Published —
In this study, researchers evaluated the effects of vitamin D supplementation for gestational diabetes mellitus.