Alagille syndrome is a genetic disorder that can affect many different parts of your body, involving the liver, heart, eyes, face, skeleton, blood vessels, and kidneys. If you have this condition, you will have fewer small bile ducts, causing less bile to flow out of the liver. It is called cholestasis. Due to the accumulation of bile, your liver will get damaged.
The estimated prevalence of this condition is about 1 in every 30,000 babies.
The most common symptoms of Alagille syndrome result from the reduced flow of bile out of the liver, including:
These symptoms typically occur in the first year of life. Some people with this disease may experience no symptoms.
Since Alagille syndrome can affect other parts of your body, you may also have signs such as:
Genetic mutation is the cause of Alagille syndrome. Mutations in either JAG1 or NOTCH2 can give rise to the condition. But the former one contributes to most cases, while the cases caused by NOTCH2 only account for only 1 to 2 percent.
Alagille syndrome is an autosomal dominant disease. In other words, a child can get this disease by inheriting a gene mutation from only one parent.
If a child has a parent with Alagille syndrome, he or she will have a 50 percent chance of inheriting the gene mutation and having this disease. However, a child without family history of Alagille syndrome may also be at risk of developing the disease. In more than half of the cases, people get the disease because of a new gene mutation that is not inherited from their parents.
Alagille syndrome may result in some complications.
Liver complications
Liver complications caused by the buildup of bile in the liver include:
Other complications
When Alagille syndrome affects other parts of your body, it may bring about complications such as:
Doctors make a diagnosis of Alagille syndrome with symptoms, family history, a physical exam, an eye exam and medical tests. Medical tests include:
Typically, doctors may diagnose Alagille syndrome if a patient has symptoms in three or more of the following areas:
If a person with family history of Alagille syndrome has problems in two of these areas, doctors may diagnose Alagille syndrome as well.
Considering that Alagille syndrome can cause health problems in different parts of the body, doctors may refer patients to people specializing in those parts.
Liver symptoms
Ursodiol may be prescribed to improve the flow of bile from the liver to the small intestine. It may help relieve severe itchy skin and reduce fatty deposits appearing as yellow bumps on the skin. Besides, using skin moisturizers, keeping baths and showers short, and trimming fingernails can help prevent skin damage from scratching.
If liver symptoms are severe and can’t improve with medicine, you may need operations such as:
Other signs and health problems
Medicines and surgeries may be recommended to treat other health problems and prevent complications. There are also some signs that don’t cause problems or require treatment.
Keywords: Alagille syndrome.
Liver Panel – Normal, High, Low
Stages of Alcoholic Liver Disease