Decreasing iron-related indexes without anaemia in a patient with genetic haemochromatosis

Clara Benedetta Conti, Alessandra Baccarin, Dario Conte, Mirella Fraquelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)839-842
Number of pages4
JournalInternal and Emergency Medicine
Issue number7
Publication statusPublished - Oct 3 2015

ASJC Scopus subject areas

  • Emergency Medicine
  • Internal Medicine


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