Alagille syndrome is a genetic disorder similar to other prolonged liver diseases that occur in infants and children.
However, there is a group of abnormalities in the organ systems that distinguish Alagille Syndrome from other hepatic and biliary diseases in children.
Children with Alagille Syndrome often have a liver disease that represents progressive lesions of the bile duct in the liver in the early years of life and the narrowing of the bile duct outside the liver.
This results in the accumulation of bile in the liver, which damages liver cells. Scarring can occur and lead to cirrhosis for about 20% to 30% of children with the disease.
Symptoms
• Jaundice
• Paleness
• Loose stools
• Developmental delay in the first three months of life.
After three months, there is prolonged jaundice, itching and fat in the skin, while growth and development is stunted during the early years of childhood.
Often, the disease is stable between ages four and 10 with improved symptoms.
Other characteristics
Other features of the syndrome include abnormalities in the cardiovascular, spine, eye and kidney systems.
The narrowing of the blood vessels between the heart and lungs (pulmonary artery) leads to excessive heart murmurs (tingling), but rarely affects heart function.
The shape of the vertebrae of the spine may look like butterfly wings on an x-ray but most never cause any neurological problems.
More than 90% of children with Alagille Syndrome have an eye abnormality.
In addition, some children with various kidney oddities will experience small changes in kidney function.
Many doctors believe those with Alagille Syndrome have unique facial expressions that can easily be diagnosed. Features include a broad and protruding forehead, deep set eyes, a straight nose and pointed chin.
Alagille Syndrome is usually transmitted from one parent, and each child has a 50% chance of developing the syndrome.
The genetic basis has only recently been identified and the “Alagille gene” found. Each affected adult or child may have all or only a few features of the syndrome.
Usually, a spouse’s father or mother, brother or sister will have the same appearance, heartbeat or butterfly-shaped vertebrae, but with the liver and kidneys completely normal.
Treatment
The treatment of Alagille Syndrome is based on increasing the flow of bile from the liver, maintaining normal growth and development, and preventing or correcting any particular deficiency in nutrition.
Because the flow of bile from the liver into the intestines is slow in those who have Alagille Syndrome, drugs that increase the flow of bile are often prescribed, including ursodeoxycholic acid.
Likewise, the itching symptoms of bile stasis in the blood and skin can be alleviated.
Other drugs, such as Benadryl, Atarax are also often used to relieve itching symptoms. High blood cholesterol levels also respond to drugs used to increase the flow of bile.
Elevated cholesterol levels can lead to small yellow deposits of cholesterol on the skin of the knees, elbows, palms of the hands, eyelids and other surfaces that are often rubbed.
Lowering the level of cholesterol in the blood usually helps improve the cholesterol level in the skin.
The estimated life expectancy of a child with Alagille Syndrome is unpredictable, but generally depends on several factors including severity of scarring in the liver, and whether heart and lung problems increase due to arterial stenosis, among others.
Many adults with Alagille Syndrome still live a normal life.
This article first appeared in hellodoktor.com. It was reviewed by Dr Duyen Le. The Hello Health Group does not provide medical advice, diagnosis or treatment.