Alagille Syndrome – What It Is, Causes and Treatments That Should Not Be Ignored. In addition, Alagille syndrome is a rare genetic disorder that severely affects various organs, especially the liver and heart , and can be fatal. This disease is characterized by insufficiency of bile and hepatic ducts, thus leading to the accumulation of bile in the liver , which prevents it from working normally to eliminate waste from the blood.
Symptoms still manifest in childhood and may cause prolonged jaundice in newborns. In some cases, symptoms may go unnoticed, causing no serious damage and in more severe cases transplantation of the affected organs may be necessary. So, check out about Alagille Syndrome – What It Is, Causes and Treatments:
What is Alagille Syndrome?
The Alagille syndrome is a disease that affects the liver , heart and other body parts. This disease affects 1 in 100,000 live births. The problems associated with this disease begin to become apparent in childhood. The disease usually stabilizes ages between 4 and 10 years.
Causes of Alagile Syndrome:
The Alagille syndrome is inherited as an autosomal dominant trait. This means it can be inherited from a parent who has the disorder. Children who have a parent with the disorder are 50 percent likely to develop the disorder.
Those with the disorder have a genetic mutation (JAG1) in the Jagged1 gene. Mutations in the NOTCH2 gene may also be considered in sufferers less than 1%.
Alagille Syndrome Symptoms:
People with Alagille Syndrome often have yellowish skin, eye spots , butterfly-shaped spine bones, heart problems, developmental delays, a lot of itchiness and cholesterol deposits in the skin.
In general the disease stabilizes between 4 and 10 years of age, but in the presence of liver failure or cardiac lesions the risk of mortality is higher.
Diagnosis of Alagille Syndrome:
The diagnosis of this syndrome is made through a liver biopsy , and the treatment seeks to alleviate the symptoms, as there is no cure for Alagille Syndrome . To alleviate symptoms and improve quality of life, medicines such as rifampin and
Phenobarbitol that regulates bile flow and decreases itching, multivitamins, heart repair surgery and organ transplantation in the most severe cases.
Major differential diagnoses include α-1-antitrypsin deficiency, viral infections such as congenital rubella, cytomegalovirus or hepatitis B.1, Byler syndrome, Aegenaes syndrome, and Zellweger syndrome.
Treatment of Alagille Syndrome:
There is no known cure for Alagille Syndrome . Most treatments available aim to improve heart function and decrease the effects of impaired liver function . Various medications are used to improve bile flow and decrease itching. Corrective surgery is sometimes necessary to improve heart defects associated with the disease.
In addition, because the pulmonary arteries are often narrow, there is a process that can be used to widen the arteries to reduce pressure on the heart’s pumping valves . Liver transplantation in recent years has been a successful alternative to medication in severe cases.