Gilbert Syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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What is hemoglobin?

Hemoglobin is the protein molecule in red blood cells that carries oxygen from the lungs to the body's tissues and returns carbon dioxide from the tissues back to the lungs.

Hemoglobin is made up of four protein molecules (globulin chains) that are connected together. The normal adult hemoglobin (Hbg) molecule contains two alpha-globulin chains and two beta-globulin chains. In fetuses and infants, beta chains are not common and the hemoglobin molecule is made up of two alpha chains and two gamma chains. As the infant grows, the gamma chains are gradually replaced by beta chains, forming the adult hemoglobin structure.

What is Gilbert syndrome?

Gilbert Syndrome is a common, harmless genetic condition in which a liver enzyme essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells) is abnormal. The condition has also been referred to as constitutional hepatic dysfunction and familial nonhemolytic jaundice. The enzyme abnormality in Gilbert syndrome results in mild elevations of bilirubin in the blood, particularly after starvation, consumption of alcohol, or dehydration.

What causes Gilbert syndrome?

Gilbert syndrome is the result of a genetic mutation in the promoter region of a gene for the enzyme UGT1A (one of the enzymes called UGT glucuronosyltransferases that are important for bilirubin metabolism). The gene is located on chromosome 2. Other types of mutations in the same gene cause the Crigler-Najjar syndrome, which is a more severe and dangerous form of hyperbilirubinemia (high bilirubin in the blood).

People with two copies of the abnormal promoter region for the UGT1A gene (one inherited from each parent) have Gilbert's syndrome and elevated bilirubin levels, suggesting an autosomal recessive mode of inheritance. This means that both parents require the gene for expression of the abnormality in the offspring.

Gilbert syndrome is a frequent finding in people in the United States and Europe. The condition is usually detected serendipitously (purely by accident) in the course of routine blood screening.

What are the symptoms of Gilbert syndrome?

The elevated bilirubin pigment can sometimes cause mild yellowing (jaundice) of the eyes. People with Gilbert syndrome are otherwise entirely normal with no other signs or symptoms. Their liver enzyme levels in blood serum are also entirely normal.

Gilbert syndrome is most commonly diagnosed after puberty, when alterations in sex hormone levels cause the blood bilirubin levels to rise. Situations that aggravate elevated blood bilirubin levels (such as fasting, destruction of red blood cells, or illnesses) may be the initial factors that cause the patient to seek medical attention.

What is the treatment for Gilbert syndrome?

There is no need for treatment, and the prognosis (outlook) is excellent.

Medically reviewed by Joseph Palermo, DO; American Osteopathic Board Certified Internal Medicine

REFERENCE:
"Patient information: Gilbert's syndrome (Beyond the Basics)" uptodate.com

Medically Reviewed by a Doctor on 6/1/2015

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