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.
Decreasing iron-related indexes without anaemia in a patient with genetic haemochromatosis / C.B. Conti, A. Baccarin, D. Conte, M. Fraquelli. - In: INTERNAL AND EMERGENCY MEDICINE. - ISSN 1828-0447. - 10:7(2015), pp. 839-842.
|Titolo:||Decreasing iron-related indexes without anaemia in a patient with genetic haemochromatosis|
CONTI, CLARA BENEDETTA (Primo)
BACCARIN, ALESSANDRA (Secondo)
CONTE, DARIO (Penultimo)
|Parole Chiave:||Emergency Medicine; Internal Medicine|
|Settore Scientifico Disciplinare:||Settore MED/12 - Gastroenterologia|
|Data di pubblicazione:||2015|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1007/s11739-015-1284-7|
|Appare nelle tipologie:||01 - Articolo su periodico|