Alagille syndrome is caused by changes, or mutations, in one of two genes, usually JAGGED1 or occasionally NOTCH2. In approximately 60 per cent of the cases of Alagille syndrome, the gene change is the result of a new mutation that occurs in that baby. In other 40 per cent of cases, the gene mutation is inherited from one of the parents. A parent carrying a disease-causing mutation has a 50 per cent chance of transmitting that gene to any subsequent children.
Each affected adult or child may have all or only a few of the features of the syndrome. Even individuals in the same family, sharing the same gene mutation have variable manifestations in each of the affected organ systems.
Alagille syndrome is an inherited genetic condition. The affected individuals demonstrate significant family history, which is a risk factor for this condition to develop.
Both male and female babies are equally prone to the disorder. No specific research exists that indicates that the condition is more predominant among any particular racial or ethnic group.
The signs and symptoms of Alagille syndrome can vary from one individual to another. In fact, even within families it can present differently. The affected individuals may be observed to have:
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
A diagnosis of Alagille syndrome may involve:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
Currently, there is no treatment available for Alagille syndrome. The goal, in most cases, is to minimize the underlying symptoms and improve the heart condition. The treatment focuses on trying to reduce the effects caused by damage of the liver, kidney, and spleen.
Though, there is no specific treatment available for Alagille syndrome, suitable management measures are taken to keep the individual as comfortable as possible and to manage the health issues that are generally seen with this disorder.
The following lifestyles and home remedies might help you cope with Alagille syndrome: