- Alagille syndrome
Name = Alagille syndrome
DiseasesDB = 29085
ICD10 = ICD10|Q|44|7|q|38 (
ICD9 = ICD9|759.89
OMIM = 118450
eMedicineSubj = ped
eMedicineTopic = 60
MeshID = D016738
Alagille syndrome is a
genetic disorderthat affects the liver, heart, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominantpattern, and the estimated prevalence of Alagille syndrome is 1 in every 70,000 live births.
It is named for
Daniel Alagille. [WhoNamedIt|synd|729] [D. Alagille, M. Odièvre, M. Gautier, J. P. Dommergues. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. Journal of Pediatrics, St. Louis, 1975, 86: 63-71.]
The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation.
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the
skinand the whites of the eyes ( jaundice), itching, and deposits of cholesterolin the skin ( xanthomas). A liver biopsymay indicate too few bile ducts (bile duct paucity). Other signs of Alagille syndrome include congenital heart problems, particularly Tetralogy of Fallot, and an unusual butterfly shape of the bones of the spinal column that can be seen in an x-ray. Many people with Alagille syndrome have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. The kidneys and central nervous systemmay also be affected. Mutations in the JAG1 genecause Alagille syndrome.cite journal |author=Oda T, Elkahloun AG, Pike BL, "et al" |title=Mutations in the human Jagged1 gene are responsible for Alagille syndrome |journal=Nat. Genet. |volume=16 |issue=3 |pages=235–42 |year=1997 |pmid=9207787 |doi=10.1038/ng0797-235] The JAG1 gene is involved in signaling between adjacent cells during embryonic development. This signaling influences how the cells are used to build body structures in the developing embryo. Mutations in JAG1 disrupt the signaling pathway, causing errors in development, especially of the heart, bile ducts in the liver, spinal column, and certain facial features. NOTCH2is also associated with Alagille syndrome.cite journal |author=Samejima H, Torii C, Kosaki R, "et al" |title=Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography |journal=Genet. Test. |volume=11 |issue=3 |pages=216–27 |year=2007 |pmid=17949281 |doi=10.1089/gte.2006.0519]
Narrowed and malformed bile ducts in the liver produce many of the health problems associated with Alagille syndrome.
Bileis produced in the liver and moves through the bile ducts into the small intestine, where it helps to digest fat. In Alagille syndrome, the bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the
gene. These cases occur in people with no history of the disorder in their family.
There is no known cure for Alagille's Syndrome. Most of the treatments available are aimed at improving the functioning of the heart, and reducing the effects of impaired liver function.
Several medications are used to improve bile flow and reduce itching (
pruritus): Ursodiol(Actigall), Hydroxyzine(Atarax), Cholestyramine, Rifampicin, and Phenobarbitolhave all been used to varying degrees of success.
Many patients with Alagille's Syndrome will also benefit from a high dose of a multivitamin such as ADEK (continuing high levels of vitamins A, D, E, and K), as the reduced bile flow makes it difficult to absorb and utilize these vitamins.
Corrective surgery is sometimes needed to repair heart defects associated with Allagile's Syndrome. Also, because the pulmonary arteries are often narrow in Alagilles patients, a catheterization process similar to
angioplastymay be used to widen the arteries to reduce pressure on the heart's pumping valves. In moderate to severe cases, stentsmay be placed in the arteries to increase their diameter. Transplantation of the liver has been a successful alternative to medication in severe cases.
Recently, a procedure called partial biliary diversion has been used to significantly reduce pruritus, jaundice, and xanthomas caused by poor bile flow. A portion of the bile produced by the liver is directed through a surgically created
stomainto a plastic pouch on the patient's lower right abdomen. The pouch is periodically drained as it fills with bile.
"This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine] "
Progressive familial intrahepatic cholestasis
* [http://www.cincinnatichildrens.org/svc/alpha/l/liver/diseases/alagille-syndrome.htm Alagille Syndrome, Liver Diseases and Treatments, Cincinnati Children's Hospital Medical Center]
* [http://www.alagille.org/ Alagille Syndrome Alliance]
* [http://www.childliverdisease.org Children's Liver Disease Foundation]
* [http://www.printnpost.com/articles/8262/1/Alagille-Syndrome/Page1.html Alagille Syndrome overview]
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