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Gilbert's disease

Professional Name Gilbert's syndrome

Summary

Gilbert’s disease is a hereditary disease of the metabolism. It reduces the normal metabolism of bilirubin, a decomposition product of hemoglobin, which is known as the red blood pigment. The result is an elevated level of bilirubin in the body. The disease is normally mild and does not need any treatment.

Description

Gilbert’s disease is an autosomal-recessive hereditary disorder. This means that affected persons must have inherited an abnormal gene from both parents. Gilbert’s disease will affect the normal metabolic degradation of bilirubin and thereby lead to generally elevated bilirubin levels. Under circumstances that increase formation of bilirubin, it will lead to an accumulation of bilirubin in the body. As a result, the skin may turn yellow (jaundice). In Gilbert’s disease this is not known to cause any complications.

Occurrence + Symptoms

The cause of Gilbert’s disease is an abnormal gene inherited through both parents. It is autosomal-recessive, which means that both genes (paternal and maternal) need to be abnormal in order to cause the disease. People with a respective family history may have a higher risk of getting the disease. Affected persons are born with the disease but it is usually discovered accidentally. For example, Gilbert’s disease is usually found in a blood test which indicates an abnormal level of bilirubin. Gilbert’s disease affects the degradation of bilirubin, which is an intermediate product in the degradation process of hemoglobin. In combination with an increased formation of bilirubin, this inefficient metabolism will cause an accumulation of bilirubin in the body, and as a result, either the skin or the sclera may turn yellow. The yellow skin or sclera is called jaundice or icterus. Besides, people with Gilbert’s disease normally hove none or only mild symptoms such as fatigue. The following conditions can increase the level of bilirubin: 1) any inflammatory and inflectional illness, 2) dehydration, 3) menstruation, 4) stress, 5) strenuous exercise, and 6) lack of sleep. Besides bilirubin, the reduced metabolism may also affect the degradation of certain medications.

Consequences + Treatment

Gilbert’s disease usually does not need any treatment. People with the disease will not always have jaundice, only under conditions that increase the level of bilirubin in the body. The symptoms may come and go, but will not cause any complications.

Possible symptoms of the disease:

yellowish discoloration of the white part of the eye, yellowish discoloration of the skin
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