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Genetic and Rare Diseases Information Center (GARD)

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Alagille syndrome

Other Names for this Disease
  • Alagille-Watson syndrome
  • Arteriohepatic dysplasia
  • Cardiovertebral syndrome
  • Cholestasis with peripheral pulmonary stenosis
  • Hepatic ductular hypoplasia
More Names
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Your Question

My husband has Alagille syndrome which affects his liver, kidneys, back and blood pressure. He recently developed joint problems in both knees. Is this related to Alagille syndrome? What is the outlook for people with Allagille syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Have joint problems been associated with Allagille syndrome?

A comprehensive search of the resources available to us did not identify any association between Allagille syndrome and joint problems.
Last updated: 11/1/2012

What are the symptoms of Alagille syndrome?

Alagille syndrome is a complex multisystem disorder involving the liver, heart, eyes, face, and skeleton.[1] Symptoms typically present in infancy or early childhood.[2] The severity of the disorder varies among affected individuals, even within the same family.[1][2] Symptoms range from so mild as to go unnoticed to severe enough to require heart and/or liver transplants.[2]

One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number. This results in a build-up of  bile causing scarring that prevents the liver from working properly. This may lead to jaundice, itchy skin, and deposits of cholesterol in the skin (xanthomas).[2]

Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Other heart-related problems include a hole between the two lower chambers of the heart (ventricular septal defect) and a combination of heart defects called tetralogy of Fallot.[2]

People with Alagille syndrome may also have distinctive facial features (including a broad, prominent forehead; deep-set eyes; and a small, pointed chin), problems with the blood vessels within the brain and spinal cord (central nervous system) and the kidneys, and an unusual butterfly shape of the bones of the spinal column (vertebrae).[2]

Detailed information about the symptoms associated with Allagille syndrome can be accessed through the National Digestive Diseases Information Clearinghouse (NDDIC) and GeneReviews.

Last updated: 11/1/2012

What is the outlook (prognosis) for individuals with Allagille syndrome?

The outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems and the early correction of malabsorption. Predicting who will experience improved bile flow and who will progress to end-stage liver failure is difficult. Fifteen percent of people with Alagille syndrome will eventually require a liver transplant.[3]

Research studies report that 75 percent of children diagnosed with Alagille syndrome live to at least 20 years of age. Because of improvements in liver and heart therapies, this survival rate is increasing. Many adults with Alagille syndrome who improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by liver failure, heart problems, and blood vessel abnormalities.[3]

Last updated: 11/1/2012