ALAGILLE-WATSON SYNDROME: WHAT IS ALAGILLE-WATSON SYNDROME?
Definition: What is "Alagille-Watson Syndrome"?
Alagille-Watson syndrome (AWS) is one of the genetic disorders which affect the different systems of the body including the heart & the liver. The symptoms of the AWS are usually manifested during early childhood or infancy. It is hereditary & its prevalence rate is 1 in every 70,000. The symptoms if AWS varies per family that in some cases it is so mild that the symptoms are unnoticeable while in some cases the symptoms may be as severe as to require transplantation of the heart. When the symptom is liver damage, the patient may have Alagille syndrome which includes yellowing of the skin & whites of the eyes, xanthomas, itching & bile duct paucity. The patient may also have congenital heart problem & kidney problems. In other less common cases, the central nervous system is affected. As for the physical manifestation, those with AWS have the same facial features which includes broad forehead, small & pointed chin & deep-set eyes. The Alagille-Watson Syndrome is caused by the mutation in the JAG1 gene. This gene plays an important role in the signaling of cells during the embryonic development. The mutation of the gene then disrupts the signaling & thus it causes developmental errors of the body's system, such as the heart, liver, spinal column & facial features. In those with liver problems caused by the AWS, the bile ducts are narrowed & malformed. This then results in bile build ups & scarring which prevents the proper elimination of wastes in the blood. Usually the child inherits the altered gene from one parent although there are cases wherein the patient develops mutations of the gene. At present, there is still no known cure for the AWS & the treatment given to patients are targeted to the improvement of the affected system of the body, such as improvement of heart or liver condition. At the same time, the treatments are aimed also at reducing the effects of the affected system. For those with liver problems caused by AWS, there are several medications which are effective in improving the bile flow & in reducing the itching & this include Actigall, Atarax, Rifampicin, Cholestyramine & Phenobarbitol. Of course the effectiveness of the medication varies per patient. Doctors also recommend the high dosage of multivitamins especially vitamins A, D, E & K, since with the damage to the bile ducts the body will have difficulty absorbing these important vitamins. For those with heart defects caused by AWC, corrective surgery is sometimes necessary.