ISSN: 2574-8009
Authors: Jenny R, Elisa T, Nicola LE, Giuseppe M1 and Mirko T*
Inflammatory bowel diseases could be associated with extra-intestinal manifestation; in this report we describe the case of a patient with ulcerative colitis who was diagnosed with genetic hemochromatosis (homozygosity for C282Y in the HFE gene) after a colitis relapse with high levels of serum ferritin (2000 ng/mL). After the genetic diagnosis patient underwent to an upper abdomen US with CEUS, with evidence of a 2 cm nodule in VIIs, suggestive for hepatocellular carcinoma, then confirmed with MR and CT scan. Patient underwent surgical resection of the lesion with histological confirmation of the malignant neoplasia. A correlation between the two diseases is not clear, but inflammatory bowel diseases and genetic hemochromatosis have some similarity: both diseases are related with functional reduction of hepcidin and in both diseases the mutations are located in chromosome 6p. Furthermore, regarding therapies, there is no evidence that iron chelation therapies could aggravate symptoms of ulcerative colitis, instead a chronic therapy with mesalazine could induce a chronic liver damage, worsening the hemochromatosis related liver damage.
Keywords: Inflammatory Bowel Diseases; Hemocromatosis; Hepatocellular Carcinoma; Iron
