Alagille–Watson syndrome (AWS)

Alagille–Watson syndrome (AWS), also known as Alagille syndrome, is a genetic disorder that affects the liver, heart, and other parts of the body. It is named after the two French physicians, Daniel Alagille and Jacqueline Watson, who first described the condition in 1969.

Symptoms and Signs

The symptoms of Alagille–Watson syndrome can vary greatly from person to person. However, the most common symptoms include jaundice (yellowing of the skin and eyes), pruritus (itching), and xanthomas (fatty deposits under the skin). Other symptoms may include heart problems, kidney abnormalities, and distinctive facial features such as a broad forehead, deep-set eyes, and a small pointed chin.

Causes

Alagille–Watson syndrome is caused by mutations in the JAG1 or NOTCH2 genes. These genes provide instructions for making proteins that are involved in the development of many tissues and organs before birth. Mutations in these genes disrupt the normal development of these tissues and organs, leading to the symptoms of Alagille–Watson syndrome.

Diagnosis

The diagnosis of Alagille–Watson syndrome is based on a combination of clinical findings and genetic testing. The clinical findings may include the characteristic symptoms of the disorder, as well as imaging studies of the liver and heart. Genetic testing can confirm the diagnosis by identifying a mutation in the JAG1 or NOTCH2 genes.

Treatment

There is currently no cure for Alagille–Watson syndrome. Treatment is aimed at managing the symptoms and preventing complications. This may include medications to reduce itching and improve liver function, surgery to correct heart defects, and in severe cases, liver transplantation.

Prognosis

The prognosis for individuals with Alagille–Watson syndrome varies depending on the severity of the symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have a shortened lifespan due to complications such as liver failure or heart disease.

See Also

• Genetic disorders
• Liver diseases
• Congenital heart defects

References

• Alagille D, Odievre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr. 1975;86(1):63-71.
• Watson GH, Miller V. Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Arch Dis Child. 1973;48(6):459-66.

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