How to understand Alagille Syndrome

Alagille Syndrome is a genetic disorder that acts like other diseases and disorder of expanded liver disease found in children and infants. Children that are diagnosed with Alagille Syndrome often have a liver disease that is identified by a slow loss of bile ducts in the liver during the first years of life along with the narrowing of the bile ducts that are outside the liver. Due to this the bile buildups in the liver and begins to damage the cells of the liver. This can lead to cirrhosis of the liver in around 40% of the children with Alagille Syndrome.

Causes of Alagille Syndrome

Alagille syndrome is inherited from a parent. The sad news is that in the majority of cases, there is a 50% chance that every child with develop Alagille Syndrome. In a few cases, the facial appearance or other symptoms may be the same with a parent, sister, brother and the child with Alagille Syndrome but have a normal liver.

Symptoms of Alagille Syndrome

•  Yellowing of the skin

•  Yellowing of the eyes

•  Pale

•  Diarrhea

•  Poor growth at birth until 3 months

•  Itching

•  Stunted growth

•  Stunted development

In some cases, Alagille Syndrome will slow down somewhere between the age of 4 and 10 at which time the symptoms will improve.

Body Features

•  The spinal column may be in the shape of wings or a butterfly when viewed by x-ray

•  A certain facial appearance shared by the children of the family which include:

•  Broad forehead

•  Deep wide set eyes

•  Malformed ears

•  Low set ears

•  Long straight nose

•  Pointed and small chin

Treatment

Treatment is centered on increasing the flow of the bile from the liver

•  Keeping growth at a normal level

•  Keeping development at a normal level

•  Preventing nutritional deficiencies that may develop

•  Correct nutritional deficiencies that may develop

Medications can be used to increase the bile flow, which can also decrease damage to the liver while improving digestion.

Itching can be relieved by certain medications such as Benadryl or Atarax.

If the disease has developed into cirrhosis of the liver, a liver transplant may be suggested.