The enzyme deficiency is caused by mutations in the gene which is responsible for the production of this enzyme. Two abnormal copies are needed to cause this disease. It is autosomal recessive in nature.
Gilbert's syndrome is most common cause of Jaundice which is often mild and goes away on its own. This disease is usually detected in puberty and usually affects men more than women.
No treatment is necessary for this disease. A drug called Phenobarbital is given to reduce the bilirubin levels.
Symptoms: - Most common sign of Gilbert's syndrome is Jaundice which is characterized by yellowing of skin and whites in the eyes. Jaundice is caused by elevated bilirubin levels. Bilirubin may increase on account of following factors. Jaundice goes away when these factors disappear.
1.Other illnesses like cold or flu
4.Inadequate intake of calories
6.Lack of sleep
Less common symptoms:-
1.Loss of appetite
Complications:-If a person has Gilbert's disease along with cancer, he may experience more side effects from cancer medications. The enzyme which clears away bilirubin is also responsible for clearing away contents of cancer medications. If these contents are not cleared there is possibility of side effects. Chemotherapy drugs which are used in treatment may cause diarrhea when this disease is present. In some cases, it is also associated with increased rsik of coronary artery disease.
Diagnosis:-Along with physical examination, the doctor may ask for symptoms such as abdominal pain or unusual appearance of urine. Following tests are administered to confirm the diagnosis.
1.Blood tests like complete blood count(CBC) to rule out possibility of other diseases
3.Liver function test
4.Ultrasound scan of liver
No specific treatment is necessary to treat Gilbert's syndrome. The bilirubin levels in the blood keep fluctuating. If the levels are higher, occasional jaundice is possible. However, it resolves on its own and usually doesn't cause any ill effects.