Alagille Syndrome

Alagille syndrome occurs when there are a reduced number of bile ducts in liver. When bile is synthesized in the liver it is stored in the gall bladder. The bile ducts act as the tubes in which the bile moves from the liver to the gallbladder. Bile ducts are also known as hepatic ducts. The main function of bile juice is to transport toxins and other wastes from the body. It also assists in the digestion of fats as well as fat soluble vitamins. When there are fewer ducts, it means that the bile is not moved sufficiently to the gallbladder and it may build up in liver. Such build up of bile juice can cause damage to the liver. When the liver is damaged, other organs and body parts may be affected such as the blood vessels, face, heart, kidneys, and the skeleton.

What causes Alagille syndrome ?

Alagille syndrome may be inherited from the parents who have the disorder or in what is referred to as autosomal dominant disorder. If one parent has this condition, there is a likelihood of a child suffering from the same. Moreover, the condition may be caused by a gene mutation in which there is no inheritance of the condition. A gene mutation or defect may occur in the Jagged1 gene, causing the condition.

Alagille syndrome symptoms

Alagille syndrome symptoms are noticed in the first two years after birth of a baby. These symptoms may vary depending on the severity of the condition and among people of same blood relation or family. In the first few weeks after birth, a baby may show symptoms of liver disease. There may be poor bile drainage from the liver. These symptoms may also appear in children and adults suffering from the same disorder.

Another symptom experienced by a patient with Alagille syndrome is jaundice. If bilirubin, the bile pigment-forming substance, increases in blood, then jaundice condition may occur. Lack of bilirubin in intestines can lead to white, gray, or pale stool. If bilirubin increases in blood, it can result to darkening of the urine. Whereas newborns with immature liver show signs of jaundice, the condition disappears in the first few weeks but with Alagille syndrome, the jaundice condition remains.

When there is increased build up of bilirubin substance, it can result to a condition known as pruritus. Such a condition causes itching, and it often starts after about 3 months following the birth of a baby and it can be quite severe. Moreover, Alagille syndrome causes malabsorption and problems in normal growth. Lack of bile because of insufficient bile ducts can result to poor absorption of fats and the fat-soluble vitamins like vitamin A, D, E, and K.  When there is malabsorption of these fats and vitamins, poor growth is witnessed in children.

There is also delayed puberty in the teenage. Other complications that may be seen are bone fractures, learning disabilities or delays, problems with blood clotting and eye complications. People with liver disease may have a condition known as xanthomas, which shows in form of fatty deposits that appear as yellow bumps beneath the skin tissue. Xanthomas is caused by high cholesterol in blood, which is associated with liver problem. The fatty deposits may be found in hands, elbows, abdomen, eyes, and hands but they are not harmful.

Besides these symptoms, there are other signs of Alagille syndrome, associated with the heart, face, eyes, kidneys, skeleton, and the spleen. A heart murmur is common in patients with Alagille syndrome and this is caused by narrowing of the pulmonary arteries that transport blood to the lungs from the heart. Such a murmur can be detected with aid of a stethoscope but it may not cause problems. Nonetheless, people with Alagille syndrome may have problems with cardiac walls and valves that could be serious necessitating surgery and medication use.

The face of most children with Alagille syndrome may have characteristics like straight nose, deep-set eyes, and a pointed chin that looks small. The forehead may be wide and prominent. The face changes as a baby grows and these facial features may not be noticed until after the infancy period. In the eyes, an opaque ring may be seen in cornea but this may not affect the vision of the person. The spinal bone may have an abnormal shape, which is noticed through an x-ray, but it may also not cause problems. Other deformities may be witnessed in the kidneys, spleen and blood vessels.

Treatment of Alagille syndrome

Treatment of Alagille syndrome helps enhance the flow of bile juice from liver, something that can aid in growth and development. The treatment may be directed towards specific symptoms such as pruritus, malabsorption problems, xanthomas, and liver function. Itching may be treated with medications like cholestyramine, but it is set to improve when the bile flow is increased.

A patient with skin itching may need to use skin hydrating substances like moisturizers and keep their fingernails trimmed so that they do not damage the skin when they scratch themselves. In severe cases of pruritus condition, a partial external biliary diversion surgery may be done. This involves connecting small intestines to gallbladder and the abdomen’s stoma.

Liver transplant may be performed if a patient has a live failure and the pruritus condition does not subside even with the partial external biliary diversion surgery or medication. A special infant formula is recommended for infants with malabsorption complications. Children and adults with Alagille syndrome should take diets rich in vitamins A, D, E, and K, as well as high calorie food and calcium.

A gastrostomy tube may be used to deliver extra calories in a child through an opening in the abdomen. The fatty tissue that worsens in the first years after birth may subsequently improve with treatment such as the partial external biliary diversion surgery and increased bile flow. If the liver fails, a transplant may be required to replace the liver organ with a healthy one obtained from an organ donor. It is important to discuss with the doctor on the most appropriate treatment after weighing the risks and benefits of each treatment option. Things like transplants may require in-depth discussion with the doctor and family of the patient.