Hadzic N.: Alpha 1 antitrypsin deficiency

Prof. Dr. Nedim Hadžić – Dino attended the ESPGHAN annual meeting in Helsinki. Of course, your enterprising podcast team, lurking there to glean the thoughts and insights of the best and the brightest, snapped him up for an interview! His training and early professional work were in Sarajevo, Bosnia-Herzegovina, but when he obtained a research fellowship in London, his supervisors soon recognised that he was too good to be allowed to return home.(For those who follow Croatian football: the centre-forward for Team Orijent in Sušak / Rijeka is a different Nedim Hadžić.) Dino is now among the consultant hepatologists at King’s College Hospital, where he has cultivated an interest in alpha-1-antitrypsin storage disorder and circulating alpha-1-antitrypsin deficiency.(No, they’re not the same thing. We’ll blur the lines and henceforward refer to alpha-1-antitrypsin disease.) He asks listeners today to think about:how alpha-1-antitrypsin disease may cause liver disease,how it may cause lung disease,why not all persons who harbour variants in SERPINA1 (which encodes alpha-1-antitrypsin) manifest clinical disease,and what can be done to treat severe liver disease associated with SERPINA1 variants.He has provided a few references for us all, set out below. LiteratureFrancavilla R et al. Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation. J Hepatol. 2000 Jun; 32(6):986-992. doi:10.1016/s0168-8278(00)80103-8. PMID: 10898319Hinds R et al. Variable degree of liver involvement in siblings with PiZZ alpha-1-antitrypsin deficiency-related liver disease. J Pediatr Gastroenterol Nutr. 2006 Jul; 43(1):136-138. doi:10.1097/01.mpg.0000226370.09085.39. PMID: 16819392Strnad P et al. Alpha1-antitrypsin deficiency. N Engl J Med. 2020 Apr 9; 382(15):1443-1455. doi:10.1056/NEJMra1910234. PMID: 32268028Clark VC et al. Fazirsiran for adults with alpha-1 antitrypsin deficiency liver disease: A phase 2 placebo-controlled trial (SEQUOIA). Gastroenterology. 2024 Oct; 167(5):1008-1018.e5. doi:10.1053/j.gastro.2024.06.028. Epub 2024 Jul 2. PMID: 38964420 Dr. Hadzic´s favourite song: Indexi - Zute dunje ESPGHAN favourite Songs can be found on Spotify https://open.spotify.com/playlist/0YIHKjxITLEm9XNyHyypTo