Alagille syndrome: a bibliographic review

Abstract

Objective: To understand the pathophysiology of Alagille Syndrome (SAG) and its forms of treatment. Bibliographic review: SAG is a rare chronic autosomal multisystem disease, characterized by the scarcity of interlobular bile ducts and by a great clinical variability that involves organs and system. Epidemiological data say that this disease affects about 1 in every 30,000 live births. The genetic mutations caused by SAG can affect the eyes, heart, bones, face and especially the liver. In the same way, the mortality averages from 10 to 20%, and in cases of liver problems or transplants the variation is 25%, heart problems 15% and brain hemorrhage in 25% of deaths. The form of treatment consists of the use of drugs with an association of fat-soluble vitamins and, in more severe cases, liver transplantation. Final considerations: The diagnosis and treatment must be treated with great care together with a multidisciplinary team for a better prognosis for the patient, thus offering a better quality of life.