What is Alagille Syndrome?
Alagille Syndrome is a major genetic disease found in infants. The preliminary affecting organ for Alagille Syndrome is the liver. The inherited disease has 50% chance of inheritance from the parents. Even though, it may look like other liver diseases or Biliary Diseases occur in children, but Alagille Syndrome becomes unique with its distinctive symptoms. The effect of the Alagille Syndrome can be seen in heart, lungs and physical appearance. The Alagille Syndrome narrows or deforms the Bile Ducts in the body. Bile Ducts help to digest fat in the liver and pass it to gallbladder and Small Intestine. However, due to the reduced amount of the ducts, Liver starts underperforming. The impaired blood flow often causes serious problems between heart and lungs. The heart defects due to Alagille Syndrome is known as Fallot. Distinct physical appearance also points towards the Alagille Syndrome. It has been noticed that children with a broad forehead pointed nose, and deep eyes tend to have the syndrome. The disease can become extremely critical for the children and infants. The presence of the syndrome causes much liver related disease like Jaundice, Xanthomas and others. The severity and criticality of the syndrome however depend on the individual. It may be very mild to very strong.
Picture 1 – What is Alagille syndrome
Symptoms of Alagille Syndrome
Children are very susceptible to Liver diseases. However, the situation changes entirely with Alagille Syndrome. The symptoms are generally common with the other biliary disease, but it has some special signs which distinguish it from others. So, it is very important to understand the symptoms of the disease.
The first and initial signs of Alagille Syndrome can be observed within three months of the born of the child. It has been noticed that the infant has pale look, Jaundice and the growth of the body look quite less than normal.
Jaundice may become persistent with the syndrome, and itching becomes very common with the child after some time. Fat starts accumulating under the skin as bile ducts fails to digest them, and Cholesterol becomes a problem in early days.
The growth of the child becomes stunt and is very less than other normal children. The children also show some breathing problem due to the syndrome.
Irregularities with Kidney, Heart, Lungs and the Eyes become prominent with passing time. Even though, the problems may not become very major but the lack of blood flow create a huge problem.
The physical appearance remains a symptom to watch for. The child develops a broad forehead along with very deep eyes. The pointing chin also shows the sign of Alagille Syndrome.
In chronic cases, Alagille Syndrome may take the form of Cirrhosis by causing damage to the liver cells.
These are the most prominent symptoms of these genetic disorder. These are also the decisive factors or symptoms that distinguish Alagille Syndrome from other Liver Diseases. Other Liver Diseases affects the liver only whereas Alagille Syndrome goes on to affect other organs as well.
Picture 2 – Alagille syndrome Facies
Picture 3 – Histology slides of Alagille syndrome
Treatment of Alagille Syndrome
Treatment of Alagille Syndrome is a significant part. The diagnosis and confirmation of the diseases are generally done by blood test. The focus of the treatment remains the increased flow of bile ducts from the liver that Alagille Syndrome restricts. It allows the fat to digest, and a deficiency of Fat Soluble vitamins like A, D, E and K can be avoided.
The breast milk mother is generally helpful for the natural treatment. However, additional MCT is provided to the infants for increase of Bile Ducts. MCT stands for medium-chain triglycerides and is helpful for releasing of bile ducts that in turns control the rest of the criticality.
Ursodeoxycholic Acid or Ursodiol are also used as per the medication to increase the bile duct flow in the system. Antihistamines are also used to control itching in the body. Rifampin is used for the same purpose. However, medicine like cholestyramine and colesevelam are used to reduce the bile salt from the body.
However, in extreme cases surgery may also be performed in order to save the infant. If the liver cells are damaged then liver transplantation might be considered.
Life Expectancy of Alagille Syndrome
The Life Expectancy of the children sometimes reduced due to the criticality of the disease. People with mild effect of Syndrome can however live normal life. But if the liver is severely damaged and the transplantation does not take place at right time, patients may have to the unfortunate death. Sometimes the patient develops chronic heart problems, and it can also become lethal for the patients. However, there is no certain average life expectancy for the patients, and it depends upon the individuals.