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Spotlight On
Alagille syndrome
Alagille syndrome is an inherited liver disorder that also affects the heart, eyes, bones, kidneys, vasculature, and other organs
Prevalence
1-9 / 1,000,000
Age of Onset
ICD-10
Q44.7
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
An inherited liver disorder that also affects the heart, eyes, bones, kidneys, vasculature, and other organs
FACT
Individuals with AGS may have characteristic facial features, including prominent forehead and pointed chin, deep-set eyes and a straight nose
FACT
An estimated 15% of people diagnosed with Alagille syndrome are at risk of severe liver disease and liver failure that can be life-threatening
FACT
A problem with the JAG1 gene - usually a mutation in, but sometimes a deletion - causes more than 90% of Alagille syndrome cases
FACT
Itchiness is often a very challenging symptom in Alagille syndrome some patients scratch so hard and so frequently that it causes red marks, bleeding, and scarring
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Common signs & symptoms
Liver problems
Nutrition problems
Heart problems
Distinctive facial features
Neurologic problems
Vascular problems
Kidney problems
Bone problems
Current treatments
Many doctors may be necessary for the best management of Alagille syndrome, including specialists in medical genetics, gastroenterology (for digestive system and liver problems), nephrology (for kidney problems), nutrition, cardiology (for heart problems), ophthalmology (for eye problems), liver transplantation, and child development. Treatment may include
Medication that increases bile flow (ursodeoxycholic acid)
and that reduces the itching, such as cholestyramine, rifampin, and naltrexone
Biliary diversion procedures
(partial internal biliary diversion and ileal exclusion) that interrupt the normal bile circulation between the intestines and liver resulting in the bile being eliminated and therefore lowering the blood bile levels. These procedures relieve symptoms of liver disease, such as itching, and improve the quality of life, but do not prevent the progression of liver disease
Liver Transplantation
to increase life span and improve liver function for those with end stage liver disease. Although there is some catch-up growth after a liver transplant in children with Alagille syndrome, it is not as much as seen in children with other liver disease
Heart surgery or a catheter based procedure
to correct a heart defect. Heart problems are treated the same as similar heart problems in children who do not have Alagille syndrome (standard medical care) although may be complicated if other organs are affected by the syndrome
Kidney surgery or treatment to correct any kidney abnormalities
Kidney problems are treated the same as kidney problems in children who do not have Alagille syndrome (standard medical care), although may be complicated if other organs are affected by the syndrome