Alagille Syndrome Flashcards
How is Alagille Syndrome inherited?
Autosomal dominant
What gene is affected in Alagille?
- Jagged1 gene (JAG1) on chrom 20p12
2. Small proportion NOTCH2 gene mutation
What are the clinical/laboratory criteria to diagnose Alagille syndrome?
Liver biopsy showing bile duct paucity with 3/5:
- Cholestasis
- Cardiac disease
- Skeletal abnormalities
- Ocular abnormalities
- Characteristic facies OR genetic testing
What are the GI manifestations of Alagille syndrome?
Intrahepatic bile duct paucity; 90% will have chronic cholestasis
Name 6 facial features of Alagille Syndrome
- Broad forehead
- Deep-set eyes
- Widely spaced eyes
- Long straight nose
- Underdeveloped mandible
- Triangular facies
Name 4 optho features of Alagille syndrome
- Posterior embryotoxin with prominent Schwalbe line (60-90%)
- Microcornea
- Optic disk Drusen (mucoproteins and mucopolysaccharides that calcify in the optic disk)
- Shallow anterior chamber
Name the most common cardiac feature seen in Alagille, and 3 other possible cardiac features.
- Most common= Peripheral pulmonic stenosis
2. Others: TOF, pulmonary atresia, VSD, ASD, coarctation of the aorta
Name the most common MSK finding in Alagille
Butterfly vertebrae
Name 2 general management principles
- Ursodiol can be helpful
2. Cholestyramine does not help and will not correct lipid abnormalities
What is the prognosis for Alagille Syndrome?
Generally good but can have:
- Pruritis
- Xanthomas with markedly elevated cholesterol levels
- Neurologic complications of vitamin E deficiency if left untreated
What are 4 indications that should prompt liver transplant in pts with Alagille syndrome?
- Progressive liver synthetic dysfunction
- Intractable pruritis
- Osteodystrophy
- Massive variceal bleeding
When and how do individuals w Alagille typically present?
85% present less than 6 months old with jaundice and FTT or cardiac symptoms.
