title: Decreasing iron-related indexes without anaemia in a patient with genetic haemochromatosis.
abstract: Present case report refers to a 48-year-old man with genetic haemochromatosis (C282Y mut/mut) diagnosed at the age of 26. After aggressive iron depleting regimen carried out up to normalization of iron-related indexes, he received a maintenance regimen based on regular phlebotomies for about 20 years. In 2014, a marked reduction of both serum ferritin and transferrin saturation percent, without concomitant anaemia, was noted on two different occasions at 5-month interval. An obscure occult GI bleeding was suspected, but both upper and lower GI tract endoscopy were negative for abnormal findings, as also was a detailed abdominal US scan. The persistence of low iron-related indexes prompted the physicians to perform a videocapsule endoscopy, which showed an ulcerative bleeding lesion in the small bowel, not confirmed however by both anterograde and retrograde double-balloon enteroscopy. Further MRI and PET allowed the identification of a 3.5 cm large lesion, located outside the small bowel wall, suspected to be a gastrointestinal stromal tumour (GIST). A further laparoscopic procedure allowed the resection of 10 cm of midileum, which included the mass, fully consistent with GIST at pathology.
authors.affiliation: Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy. benedetta.conti1@gmail.com.|Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. benedetta.conti1@gmail.com.
authors.forename: Clara Benedetta
authors.initials: CB
authors.lastname: Conti
authors.affiliation: Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.|Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Baccarin
authors.affiliation: Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.|Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: Conte
authors.affiliation: Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.|Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
authors.forename: Mirella
authors.initials: M
authors.lastname: Fraquelli
mesh_terms: D000740:Anemia / Q000150:complications / Q000175:diagnosis / Q000209:etiology*; D006432:Hemochromatosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D008875:Middle Aged
chemical_list: D007501:Iron