Occult celiac disease prevents penetrance of hemochromatosis

AIM: To report a patient with C282Y homozygocity, depleted body iron and intestinal atrophy caused by celiac disease (CD) who experienced resolution of the enteropathy with subsequent normalization of iron metabolism upon glutenfree diet.METHODS: To obtain information on the tissue distribution and quantitative expression of proteins involved in duodenal iron trafficking, we determined the expression of divalent-metal transporter 1 (DMT1), ferroportin 1 (FP1) and transferrin receptor (TfR1) by means of immunohistochemistry and real-time PCR in duodenal biopsies of this patient.RESULTS: Whereas in hereditary hemochromatosis patients without CD, DMT1 expression was up-regulated leading to excessive uptake of iron, we identified a significant reduction in protein and mRNA expression of DMT1 as acompensatory mechanism in this patient with HH and CD.CONCLUSION: Occult CD may compensate tot increased DMT1 expression in a specific subset of individuals withhomozygous C282Y mutations in the hemochromatosis(HFE) gene, thus contributing to the low penetrance of HH.

patients with inflammatory bowel disease:Mechanisms and possible clinical impact

BACKGROUND High-dose intravenous iron is an effective treatment option for iron deficiency(ID)or ID anaemia(IDA)in inflammatory bowel disease(IBD).However,treatment with ferric carboxymaltose(FCM)has been associated with the development of hypophosphatemia.AIM To investigate mechanisms behind the development of hypophosphatemia after intravenous iron treatment,and disclose symptoms and clinical manifestations related to hypophosphatemia short-term.METHODS A prospective observational study of adult IBD patients with ID or IDA was conducted between February 1,2017 and July 1,2018 at two separate university hospitals in the southeast region of Norway.Patients received one dose of 1000 mg of either FCM or ferric derisomaltose(FDI)and were followed for an observation period of at least 7 wk.Blood and urine samples were collected for relevant analyses at baseline,week 2 and at week 6.Clinical symptoms were assessed at the same timepoints using a respiratory function test,a visual analogue scale,and a health-related quality of life questionnaire.RESULTS A total of 106 patients was available for analysis in this study.The FCM treatment group consisted of 52 patients and hypophosphatemia was present in 72.5%of the patients at week 2,and in 21.6%at week 6.In comparison,the FDI treatment group consisted of 54 patients and 11.3%of the patients had hypophosphatemia at week 2,and 3.7%at week 6.The difference in incidence was highly significant at both week 2 and 6(P<0.001 and P<0.013,respectively).We observed a significantly higher mean concentration of intact fibroblast growth factor 23(P<0.001),a significant rise in mean urine fractional excretion of phosphate(P=0.004),a significant decrease of 1,25-dihydroxyvitamin D(P<0.001)and of ionised calcium levels(P<0.012)in the FCM-treated patients compared with patients who received FDI.No clinical symptoms could with certainty be related to hypophosphatemia,since neither the respiratory function test,SF-36(36-item short form health survey)or the visual analogue scale scores resulted in significant differences between patients who developed hypophosphatemia or not.CONCLUSION Fibroblast growth factor 23 has a key role in FCM induced hypophosphatemia,probably by inducing loss of phosphate in the urine.Short-term clinical impact of hypophosphatemia was not demonstrated.

Extremely severe hypochloremic metabolic alkalosis after ileorectal anastomosis in a patient with chronic intestinal pseudo-obstruction

Introduction Chronic intestinal pseudo-obstruction(CIPO),defined as chronic constipation without mechanical obstruction of the gastrointestinal tract[1,2],often presents with a truly chameleon-like symptomatology including irregular defecation,abdominal pain and distension,nausea,vomiting,and sometimes fluid/electrolyte imbalance.Although diarrhea was found in17%of CIPO cases,its nature,however,has not been precisely described.Serious deviations of electrolyte and acid–base status,to the best of our knowledge,have not been reported.