Alagille Syndrome: Epidemiology and Management of a Rare Genetic Disease

Alagille syndrome (ALGS) is a rare, genetically inherited multisystem disorder that typically presents in early childhood.¹ The condition is attributed to pathogenic variants in the Notch Homolog 2 (NOTCH2) and jagged canonical Notch ligand 1 (JAG1) genes.^1,2 The incidence of ALGS is estimated to be between 1 in 30,000 to 1 in 1,000,000 individuals.¹

This condition is characterized by a range of symptoms and anomalies, most notably cholestasis, which can lead to severe liver disease.¹ These anomalies can include renal anomalies, cardiac abnormalities, vascular malformations, bone deformities, eye irregularities, and developmental delays.^1,3 Genetic testing and diagnostic imaging are key in diagnosis.¹ Treatment includes medication to address symptoms─especially pruritus─and liver transplant is not uncommon in these patients.²

The Global Alagille Alliance (GALA) Study comprises more than 100 physicians, surgeons, scientists, and research coordinators from 32 countries around the world. This study aims to produce several significant findings regarding ALGS that contribute to a better understanding of the condition and help improve clinical decision-making and patient care.^3,4