What is Alagille syndrome life expectancy?

What is Alagille syndrome life expectancy?

Many people with Alagille syndrome have only mild symptoms and can lead normal lives with normal life expectancy. However, others have severe and even life-threatening complications such as liver failure, serious heart defects, and bleeding or stroke due to blood vessel problems.

How can Alagille syndrome be prevented?

Can I prevent Alagille syndrome? Experts have not yet found a way to prevent Alagille syndrome. People with Alagille syndrome should see their doctors regularly to help manage symptoms, health problems, and complications. Doctors may be able to prevent some complications or prevent complications from getting worse.

Is Alagille syndrome curable?

While there is no known cure for Alagille syndrome, there are treatments that can help control symptoms. Possible treatments may include medication that increases the flow of bile and careful management of diet to minimize nutrition and vitamin related problems. In severe cases, a liver transplant may be necessary.

What does Alagille syndrome look like?

People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin. The disorder may also affect the blood vessels within the brain and spinal cord (central nervous system) and the kidneys.

How do you test for Alagille syndrome?

A diagnosis of Alagille syndrome is confirmed by a liver biopsy that shows fewer bile ducts than normal and at least 3 of these symptoms: Face shapes characteristic of Alagille syndrome. Unusual bone/spine structures such as a butterfly vertebrae. Unusual heart/blood vessel structures or a heart murmur.

Is Alagille syndrome detectable prior to birth?

How is Alagille syndrome diagnosed? Although Alagille syndrome is present from birth, it is often not diagnosed until later in childhood, particularly in less severe cases with few symptoms.

What kind of digestive symptoms would a person with Alagille experience?

People with Alagille syndrome may have diarrhea—loose, watery stools—due to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays.

Does Alagille syndrome cause retardation?

Alagille syndrome is an autosomal dominant disorder with variable expression. Associated abnormalities include those of the liver, heart, eye, skeleton, and kidneys and characteristic facial features. Mild-to-moderate mental retardation also may be present.

How common is Alagille syndrome?

The incidence of Alagille syndrome has been estimated to be approximately 1 in 30,000-45,000 individuals in the general population.

Is Aicardi syndrome fatal?

In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell is nearly always lethal very early in development, so almost all babies with Aicardi syndrome are female. However, a few affected males with an extra copy of the X chromosome in each cell (47,XXY) have been identified.

When was Alagille syndrome discovered?

The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000 to 1 in every 40,000 live births. It is named after the French pediatrician Daniel Alagille, who first described the condition in 1969.

How does Alagille syndrome affect the human body?

Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. The liver problems result from having fewer small bile ducts than normal in the liver.

What kind of mutations are found in Alagille syndrome?

Alagille syndrome is caused by mutations in one of two genes – the JAG1 gene or the NOTCH2 gene. Mutations of the JAG1 gene have been identified in more than 88 percent of cases. Mutations in the NOTCH2 gene account for less than 1 percent of cases. These mutations are inherited as autosomal dominant traits.

What causes small kidneys in people with Alagille syndrome?

Kidney abnormalities may be more prevalent in individuals with Alagille syndrome caused by mutations in the NOTCH2 gene and include abnormally small kidneys, the presence of cysts on the kidneys and decreased or impaired kidney function.

What happens to the bile ducts with Alagille syndrome?

Approximately 90 percent of individuals with Alagille syndrome have a reduced number of bile ducts (bile duct paucity) within the liver. Bile ducts are small tube-like structures that carry bile from the liver to the small intestines. The formation of bile is one of the functions of the liver.