36. An interesting case of jaundice in an adult

Abstract

Background: Dianosis of recurrent cholestatic jaundice in an adult is often challenging. We report an interesting case of recurrent cholestatic jaundice in a young adult. Case Summary: A 24-year-old male presented with jaundice with itching and clay colored stool since 3 months. He took complementary alternative medicine in the form of Phyllantus niruri with other treatment for 10 days followed by which his jaundice deepened and was referred to Chennai. Patient had a past history of 6 similar episodes spanning over 10 years with complete recovery in between. Each episode of jaundice had maximum bilirubin ranging from 2 mg/dl to 25 mg/dl and duration from 7 to 45 days followed by complete normalization of LFTs after each episode. No significant addiction or family or perinatal history. Labs suggestive of cholestatic jaundice with high serum bile acids and high triglycerides. Based on this history of recurrent jaundice with complete recovery after each episode, BRIC was considered and after exhaustive work up excluding other etiologies, mutational analysis for ATP8B1 was sent which came positive for a missense mutation in JAG1 gene consistent with Alagille syndrome. Clinically this was labeled as BRIC with incidentally detected incomplete penetrance of JAG1 gene. Patient was managed conservatively and on follow up after 45 days he again had normal LFTs. Conclusions: Recurrent cholestatic jaundice in an adult requires workup for common followed by uncommon and genetic causes. These patients require regular follow up to see for worsening LFTs as BRIC can progress to PFIC in a small number of patients. The authors have none to declare.