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Alagille syndrome

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Alagille syndrome is a genetic condition wherein the dominant characteristic is progressive loss of bile ducts. The symptoms are similar to other liver diseases; nonetheless it can be identified in children as it is an inherited condition and displays some typical symptoms which are different from other liver diseases.

 

Cause of alagille syndrome

The genetic abnormality that leads to Alagille syndrome is associated with the JAGGED 1 gene and Notch signaling pathway of the body. Due to genetic deletions the cells are unable to conduct signals for building proper body structures during the process of embryonic development inside the womb. As a result of this the bile ducts are malformed and formation of other structures like heart and facial features is also affected.

About 30-50 % of cases are inherited from parents and rest cases occur due to introduction of newly altered genetic constitution (mutation) in the respective person.

 

Symptoms of alagille syndrome

The initial symptoms are:

  • Jaundice at birth
  • Severe itching in body
  • Loose and pale colored stools
  • Dark urine
  • Malabsorption of nutrients
  • Poor growth and abnormal weight loss
  • Development of yellow bumps or xanthomas on skin

Children with alagille syndrome usually have typical facial features which include sharp pointed chin, straight nose, big ears, defect in eyes and abnormal structure of the spine.

They develop heart disorders associated with heart beat, circulation and also in the valves and walls. Kidney complications might also be present.

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Complications of alagille syndrome

  • Internal hemorrhage and stroke
  • Live cirrhosis and liver failure

Death usually occurs due to poor nutrition, liver failure and heart failure.

 

Diagnosis of alagille syndrome

Doctors take the medical history of patients and scrutinize the symptoms carefully.

The following tests are suggested in order to understand that the condition is alagille syndrome and not any other liver disease:

  • Comprehensive liver test- blood tests for analyzing the function of liver and the biliary system, ultrasound of the liver and liver biopsy to check the complexity present in bile ducts, scarring in liver and other abnormalities.
  • Nuclear scan is another technique through which quantity of bile flow can be measured.

Apart from the aforementioned tests, your doctor will look for murmuring sounds in the heart and order cardiology tests to rule out heart disease. X rays of bone, eye examination, nutritional assessment, and genetic testing are also performed to confirm alagille syndrome.

 

Treatment of alagille syndrome

There’s no specific treatment for alagille syndrome. Management of alagille syndrome depends on the health status of patients and their age.

The following strategies are opted for to improve health of patients:

  • Medicines are prescribed to increase bile flow which is a primary objective of reducing the complications.
  • Vitamins (A, D, E, and K) supplements are given to deal with malabsorption symptoms and suffice for nutritional demands of patients
  • Heart complications will be managed with medicines and modulation of diet and lifestyle.
  • If the liver has been damaged severely then doctor might consider transplantation.
  • Medicines are prescribed to reduce skin symptoms associated with itching and rashes

Infants are given special formula which get well absorbed in the body and boost their growth as well.

Research studies have shown that about 75% of children with alagille syndrome live up to 20 years which might extend with improvement in bile flow, nutrition supplementation and liver transplant.

Written by: healthplus24.com team
Date last updated: November 03, 2014