Symptoms and Treatment of Alagille's Syndrome

Symptoms and Treatment of Alagille's Syndrome
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Alagille syndrome is a rare inherited disorder of the liver. Those with this syndrome have fewer bile or hepatic ducts within the liver, which may lead to permanent damage and loss of function. If and when the liver stops working, a transplant is required. Problems caused by this type of disease not only affect the liver, but several organs and systems of the body. Understanding the symptoms and what bodily systems can be affected is crucial for patients.

While many of these symptoms are present in children and infants suffering from Alagille snydrome, they may also be present for adults. Bumps on the skin, which are yellow in color, are referred to as xanthomas. Xanthomas occur because of high cholesterol in the blood, which is often present in those with liver disease. These can appear on the extremities of the body, stomach, and the face. Jaundice, the condition which causes yellowing of the skin and whites of the eyes is also fairly common among patients suffering from liver disease. Although many newborns have jaundice, it typically goes away with or without treatment. However, jaundice caused by liver-related conditions persists and does not go away. Bowel problems may also surface as the lack of bile ducts doesn’t allow for proper absorption in the intestines. As a result, the patient’s growth may be affected and bones can become brittle. Developmental delays, chronic diarrhea, delayed blood clotting, and vision problems associated with this liver disease can also caused by malabsorption.

Alagille Syndrome and Other Body Organs

Several symptoms related to numerous liver conditions are closely related to this particular disease. However, those suffering from Alagille often exhibit signs and symptoms that vastly differ from the other diseases of the liver. This can include heart problems, such as murmur and restrictions of vessels, abnormalities of the skeletal system and carotid arteries, an enlarged spleen, and problems with kidney function. These particular symptoms will often vary by patients and some are not present until later stages of Alagille’s. Most are mild and will not become life-threatening, but there is the potential for serious complications. This is especially true of an enlarged spleen and abnormalities of the blood vessels.

Treatment

Treatment of Agille’s will focus on the prevention and management of symptoms and promoting the appropriate flow of bile from the liver. How this is treated will depend on several factors, including the age of the patient and the severity of the disease. Those in the advanced or later stages of the liver disease will most likely need a liver transplant. Statistics indicate that 15% of patients with the syndrome will at some time need the transplant. Despite treatment, death can occur with this type of liver disease. This is most often caused by liver failure.

References

Alagille Syndrome. National Digestive Diseases Information Clearinghouse. NIH Publication No. 09-6408 February 2009. Viewed 29, December 2009. https://digestive.niddk.nih.gov/ddiseases/pubs/alagille/.

Alagille Syndrome. Boston Children’s Hospital. Harvard Medical School. 2009. Viewed 29, December 2009. https://www.childrenshospital.org/az/Site956/mainpageS956P0.html