ALAGILLE SYNDROME

Course overview

ALAGILLE SYNDROME (ALGS) IS A MULTISYSTEM AUTOSOMAL DOMINANT DISORDER WITH A WIDE VARIETY OF CLINICAL MANIFESTATIONS. IT IS ALSO KNOWN AS ARTERIOHEPATIC DYSPLASIA, ALAGILLE-WATSON SYNDROME, WATSON-MILLER SYNDROME OR SYNDROMIC BILE DUCT PAUCITY. THE CLINICAL MANIFESTATIONS ARE VARIABLE, EVEN WITHIN THE SAME FAMILY, AND COMMONLY INCLUDE HEPATIC (CHOLESTASIS, CHARACTERIZED BY BILE DUCT PAUCITY ON LIVER BIOPSY), CARDIAC (PRIMARILY INVOLVING THE PULMONARY ARTERIES), SKELETAL (BUTTERFLY VERTEBRAE), OPHTHALMOLOGIC (POSTERIOR EMBRYOTOXON), AND FACIAL ABNORMALITIES. ALAGILLE SYNDROME CAN RANGE FROM A SUBCLINICAL PRESENTATION TO A LIFE-THREATENING CONDITION, WITH A MORTALITY RATE OF UP TO 10%. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF ALAGILLE SYNDROME, AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING AND TREATING PATIENT WITH THIS CONDITION.