Alagille Syndrome: Genetic Basis, Diagnostic Approach, Multisystem Care, and Support Strategies for Pediatric and Adult
Alagille syndrome is a rare genetic disorder affecting the liver, heart, skeleton, eyes, and kidneys. It results from mutations in the JAG1 gene or, less commonly, NOTCH2, disrupting organ development and bile duct formation. Infants often present with jaundice, pale stools, itching, poor growth, and fat-soluble vitamin deficiencies due to bile duct paucity.
Cardiac abnormalities, typically involving pulmonary arteries, may vary in severity. Facial characteristics include prominent forehead, deep-set eyes, and pointed chin. Skeletal findings often involve butterfly-shaped vertebrae.
Diagnosis requires clinical examination, genetic testing, liver biopsy, cardiac imaging, and ophthalmologic evaluation. Nutritional support with specialized formulas, supplements, and calorie-dense diets helps growth. Medications reduce bile salt-related itching and improve bile flow. Severe liver dysfunction may require transplantation. Regular cardiac monitoring assesses structural abnormalities, and kidney function is monitored throughout life.
Family counseling, early developmental support, and school accommodations improve quality of life. Multidisciplinary care includes hepatologists, cardiologists, nutritionists, neurologists,…