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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.
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Genetic CounselingYour health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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Jaundice (Hyperbilirubinemia) in Adults
Jaundice (hyperbilirubinemia) in adults may be caused by a variety of medical diseases or conditions. Some cases of jaundice can be managed at home with a doctor's supervision, while other causes of jaundice may be life-threatening. Symptoms of jaundice are yellow skin, yellowing of the whites of the eyes, pale colored stools, dark urine, itchy skin, vomiting, nausea, and rectal bleeding.
Treatment of jaundice is focused on the disease or condition that is causing jaundice.
Liver Blood TestsAn initial step in detecting liver damage is a simple blood test to determine the presence of certain liver enzymes in the blood. Under normal circumstances, these enzymes reside within the cells of the liver. But when the liver is injured, these enzymes are spilled into the blood stream, and can lead to diseases like fatty liver, type 2 diabetes, obesity, and hepatitis. Several medications also can increase liver enzyme test results.
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Newborn Jaundice (Neonatal Jaundice)
Jaundice in newborns and babies (neonatal jaundice) usually occurs because of a normal increase in red blood cell breakdown and the fact that their immature livers are not efficient at removing bilirubin from the bloodstream.
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Treatment of jaundice in newborns include phototherapy, tanning booths, and other treatments.
PubertyThe time when boys and girls begin the process of sexual maturation is called puberty. During this time, both sexes undergo a series of biological changes that include a rapid increase in height, bone growth, weight increase, the growth of pubic hair, breast development and the onset of menstruation in girls, and testicle, penis, and muscle enlargement in boys.
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