Alagille Syndrome

Alagille syndrome is a genetically inherited condition that resembles other forms of long-term liver disease. It affects infants and young children. There are, however, symptoms and abnormalities present in other organs that are specific to Alagille syndrome, which helps in differentiating this disease from other liver diseases.

Alagille syndrome is also known as arteriohepatic dysplasia and syndromatic ductopenia. Children with Alagille syndrome usually have a progressive loss of the function of the bile ducts within the liver, and with time an accumulation of bile within this organ develops. Damage to the cells of the liver may lead to scarring and cirrhosis.

Causes Of Alagille Syndrome

Alagille syndrome can be inherited from one parent. It is an autosomal dominant disorder consisting in mutations in the JAG1 gene on chromosome 20p12. This gene is responsible for certain cell-to-cell interactions that play an important role in development. Children with one affected parent have a 50% chance of inheriting Alagille syndrome.

The results of this gene’s mutations can be observed mainly in the cardiovascular system, and in the liver they affect blood vessels. There are other conditions present in other organs of the body that are associated to the same genetic anomaly that causes Alagille syndrome.

Diagnosis Of Alagille Syndrome

Alagille syndrome can be diagnosed by microscopic examination of liver biopsy samples. A common stethoscope examination of the child’s heart and chest is also useful. The diagnosis can also be confirmed by performing a slit-lamp exam (a special eye test), X-rays of the spinal column and a sonogram (ultrasound test) of the abdominal area.

Symptoms Of Alagille Syndrome

Common symptoms of Alagille syndrome are jaundice, parlor, loose stools, and poor growth within the first three months of the child’s life. Later, there is persistent jaundice, itching, fatty deposits in the skin, and stunted growth and development during early childhood. Usually the disease stabilizes between ages four and ten with an improvement in these symptoms.

Other symptoms and characteristics of Alagille syndrome may be present too. For instance, abnormalities in the cardiovascular system (heart murmurs caused by a narrow pulmonary artery), the spinal column (butterfly-shaped wings), the eye, and the kidneys may be present.
Treatment Of Alagille Syndrome.

Treatment Of Alagille Syndrome

Treatment of Alagille syndrome is focused on increasing the flow of bile from the liver and maintaining normal growth and development. Itching caused by the buildup of bile in the blood and skin should be addressed too. When cirrhosis is in an advanced state, transplantation of the liver may be considered.

Usually the medications prescribed to increase bile flow into the intestines have negative side effects in digestion, and often cause an elevation of the levels of cholesterol in the blood. This should not be treated with a low-fat diet, because the fat and calories absorption has great benefits for a child; instead, a diet that substitutes conventional infant formulas with formulas that contain high levels of MCT (medium-chain triglycerides) is often recommended. The difficulty to absorb fat often leads to poor vitamin absorption. In these cases, vitamin supplements are recommended.

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