Bilirubinemia Constitutional

Constitutional bilirubinemia is a syndrome associated with excess bilirubin in the blood caused by a hereditary gene deficiency at the level of bilirubin metabolism. Bilirubin is a breakdown product of hemoglobin and is released into the blood during the formation of red blood cells. The syndrome is characterized by jaundice of the skin and mucous membranes, as well as various symptoms such as weakness, dizziness, nausea and vomiting.

Constitutional bilirubinemia is called Gilbert-Meulengracht syndrome due to the fact that these two doctors described the first case of the disease in 1893. This disorder was originally described as cases of chronic jaundice in male children who were not susceptible to liver disease or other causes of jaundice. Further research revealed that the syndrome was caused by a genetic factor.

The syndrome is associated with a decrease in the activity of the enzyme that metabolizes bilirubin in the liver. People with this disease have low levels of this enzyme and take longer to clear bilirubin from the blood. Symptoms can begin in childhood, but most often begin during adolescence. Characteristic symptoms are jaundice of the skin, pale mucous membranes and digestive system upset.

Most cases have no consequences and are asymptomatic. However, these cases are more common than previously thought. The syndrome may also be associated with other diseases, including Wilson's disease, Konovalov and Batten disease, and so on.

Various complications may occur among patients with Constitutional bilirubinemia. For example