Alagille syndrome is a rare autosomal dominant disorder that results in multiple comorbidities. Due to recent advances in medicine, surgery and nutrition, patients with Alagille syndrome are living longer and new pathologies resulting from the underlying JAG2/NOTCH receptor mutation are being discovered. Our current understanding of Alagille Syndrome is chronic cholestasis and an increased risk of developing cirrhosis and hepatocellular carcinoma due to malformation of ductal system during embryonic development. What is new in this report is an expanding discussion of Alagille Syndrome including nutritional management, hepatic complications with review of current literature and a polyposis-like syndrome. This case report describes a 35 year-old patient with Alagille syndrome who initially presented with rectal bleeding and microcytic anemia. Colonoscopy revealed numerous polyps throughout the colon and biopsies of certain lesions revealed colorectal adenocarcinoma. This case report will review the comorbidities commonly associated with this syndrome.
|Original language||English (US)|
|Number of pages||5|
|State||Published - Nov 1 2013|
ASJC Scopus subject areas