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Diagnosis of Alagille syndrome
Diagnosing any syndrome is challenging, and extensive investigations along with a good clinical sense are essential for correct diagnosis. Your doctor will ask questions about the symptoms and then perform a thorough clinical examination. One of the detectable signs of Alagille syndrome is heart murmurs, owing to the problems that can be present in the heart including heart defects and valvular problems. They will also perform an ophthalmic examination to detect retinal problems, which is also commonly associated with Alagille syndrome. Afterwards, they will ask for a number of investigations:
- Liver function tests: Liver function tests are ordered routinely once the condition is diagnosed. They include liver enzymes, which are signs of liver damage as well as coagulation tests. There are abnormalities of coagulation in patients with Alagille syndrome due to vitamin K deficiency, which is also a fat-soluble vitamin.
- Bilirubin level and GGT: Bilirubin level is needed when there is jaundice, and GGT is a special lab investigation that is related to problems in the biliary tree and is usually elevated in Alagille syndrome.
- Levels of vitamins including vitamin D and K are usually reduced for the lack of adequate bile flow, impairing absorption.
- Gene analysis: If the diagnosis is not clear or if confirmation is needed, your doctor will order a gene analysis to detect the mutation of the JAG-1 gene.
