How is Alagille syndrome diagnosed?
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.
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.
What percent of individuals with Alagille syndrome will have an identifiable mutation in the JAG1 gene?
These cardiovascular anomalies are responsible for high morbidity and mortality in individuals with Alagille syndrome. Alagille syndrome is caused by dominant mutations in the JAG1(JAGGED1) gene, which encodes the NOTCH receptor 1 ligand JAG1. JAG1 mutations account for approximately 89% of cases of Alagille syndrome.
Who treats Alagille syndrome?
Doctors may refer people with Alagille syndrome to a hepatologist, a doctor who specializes in liver diseases, to treat liver symptoms and complications. Doctors may also refer patients to specialists who focus on other parts of the body, such as the heart, blood vessels, or kidneys.
What type of chromosomal mutation will lead to 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 in an autosomal dominant pattern.
What is cholestatic pruritus?
Cholestatic pruritus is the sensation of itch due to nearly any liver disease, but the most commonly associated entities are primary biliary cholangitis, primary sclerosing cholangitis, obstructive choledocholithiasis, carcinoma of the bile duct, cholestasis (also see drug-induced pruritus), and chronic hepatitis C …
Can Alagille syndrome be detected before birth?
Although Alagille syndrome is present from birth, it is often not diagnosed until later in childhood, particularly in less severe cases with few symptoms. To diagnose Alagille syndrome, a clinician will typically conduct a physical examination and order some or all of the following tests: blood test. urinalysis.
Is there a cure for Alagille syndrome?
Treatment for Alagille Syndrome There is no cure for Alagille syndrome. Management of the disorder is aimed at preventing complications, increasing the flow of bile from the liver, maintaining normal growth and development and reducing blood cholesterol levels.
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.
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.