Gilbert's Syndrome, also known as constitutional liver dysfunction, is a genetic disease that is characterized by jaundice, which causes people to have yellow skin and eyes. It is not considered a serious disease, nor does it trigger major health problems, and, therefore, the person with the Syndrome lives as long as a non-carrier of the disease and with the same quality of life.
Gilbert's syndrome is more common in males and is caused by changes in a gene responsible for the degradation of bilirubin, that is, with the mutation in the gene, bilirubin cannot be degraded, accumulating in the blood and developing the yellowish aspect that characterizes this disease.
Possible symptoms
Normally, Gilbert's Syndrome does not cause symptoms except the presence of jaundice, which corresponds to the skin and yellow eyes. However, some people with the disease report fatigue, dizziness, headache, nausea, diarrhea or constipation, and these symptoms are not characteristic of the disease. They usually arise when the person with Gilbert's disease has an infection or is undergoing a very stressful situation.
How the diagnosis is made
Gilbert's syndrome is not easy to diagnose, as it usually has no symptoms and jaundice can often be interpreted as a sign of anemia. In addition, this disease, regardless of age, usually manifests only in times of stress, intense physical exercises, prolonged fasting, during some febrile illness or during the menstrual period in women.
The diagnosis is made in order to exclude other causes of liver dysfunction and, therefore, unsolicited tests for liver function tests, such as TGO or ALT, TGP or AST, and bilirubin levels, in addition to urine tests, to assess concentration urobilinogen, complete blood count and, depending on the result, a molecular test to search for the mutation responsible for the disease. See what are the tests that evaluate the liver.
Normally the results of liver function tests in people with Gilbert's Syndrome are normal, with the exception of the indirect bilirubin concentration, which is above 2.5mg / dL, when the normal is between 0.2 and 0.7mg / dL. Understand what direct and indirect bilirubin is.
In addition to the examinations requested by the hepatologist, physical aspects of the person are also evaluated, in addition to family history, since it is a genetic and inherited disease.
How the treatment is done
There is no specific treatment for this syndrome, however some precautions are necessary, since some drugs used to fight other diseases may not be metabolized in the liver, as they have reduced activity of the enzyme responsible for the metabolism of these drugs, such as for example Irinotecan and Indinavir, which are anticancer and antiviral respectively.
In addition, alcoholic beverages are not recommended for people with Gilbert's syndrome, as there may be permanent liver damage and lead to the progression of the syndrome and the occurrence of more serious illnesses.
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