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

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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.

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References

  1. Kew MC (2014) Hepatic iron overload and hepatocellular carcinoma. Liver Cancer 3(1):31–40

  2. Haller F (2010) Molecular biological evaluation of prognostic parameters in GIST. Development of an integrative model of tumor progression. Pathologe 31 Suppl 2:161–166

  3. Goh BK, Chow PK, Yap WM et al (2008) Which is the optimal risk stratification system for surgically treated localized primary GIST? Comparison of three contemporary prognostic criteria in 171 tumors and a proposal for a modified Armed Forces Institute of Pathology risk criteria. Ann Surg Oncol 15(8):2153–2163

  4. Bertucci F, Finetti P, Ostrowski et al (2012) Genomic Grade Index predicts postoperative clinical outcome of GIST. Br J Cancer 107(8):1433–1441

  5. Kapoor R, Khosla D, Kumar P et al (2013) Five-year follow up of patients with gastrointestinal stromal tumor: recurrence-free survival by risk group. Asia Pac J Clin Oncol 9(1):40–46

  6. Tsukuda K, Hirai R, Miyake T et al (2007) The outcome of gastrointestinal stromal tumors (GISTs) after a surgical resection in our institute. Surg Today 37:953–957

    Article  PubMed  Google Scholar 

  7. Chiang TH, Lee YC, Tu CH et al (2011) Performance of the immunochemical fecal occult blood test in predicting lesions in the lower gastrointestinal tract. CMAJ 183(13):1474–1481

  8. Kamalaporn P, Cho S, Basset N et al (2008) Double-balloon enteroscopy following capsule endoscopy in the management of obscure gastrointestinal bleeding: outcome of a combined approach. Can J Gastroenterol 22(5):491–495

  9. Chen WG, Shan GD, Zhang H et al (2013) Double-balloon enteroscopy in small bowel tumors: a Chinese single-center study. World J Gastroenterol 19(23):3665–3671

  10. Kim BS, Li BT, Engel A et al. (2014) Diagnosis of gastrointestinal bleeding: a practical guide for clinicians. World J Gastrointest Pathophysiol 5(4):467–478

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Correspondence to Clara Benedetta Conti.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.

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Informed consent was obtained from all individual participants included in the study.

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Conti, C.B., Baccarin, A., Conte, D. et al. Decreasing iron-related indexes without anaemia in a patient with genetic haemochromatosis. Intern Emerg Med 10, 839–842 (2015). https://doi.org/10.1007/s11739-015-1284-7

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  • DOI: https://doi.org/10.1007/s11739-015-1284-7

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