Genetic links to hemochromatosis were first reported in 1976 and,

Genetic links to hemochromatosis were first reported in 1976 and, in 1996, a strong association was reported with the C282Y mutation in the HFE gene. Knowledge of the relationship between the mutation and excessive iron absorption is incomplete but involves up-regulation of the

divalent metal transporter protein, low levels of a polypeptide called hepcidin and up-regulation of a basolateral transport protein called ferroportin. Organs with the highest levels of transferrin receptors are at highest risk for damage by free radicals released by non-transferrin bound iron (free iron). Despite these important developments, most patients are treated by regular venesection, usually removal of 400-500 ml of blood that contains approximately Selleck STI571 250 mg of iron. The patient illustrated selleck inhibitor below was a woman, aged 53, who was investigated because of malaise and intermittent abdominal pain. On examination, she appeared to have prominent skin pigmentation. Liver function tests were abnormal and her serum ferritin was elevated at 834 µg/l. She subsequently developed symptoms of adrenal insufficiency and was commenced on steroid replacement therapy. Genetic testing revealed a homozygous C282Y mutation

while her liver biopsy showed grade 4 iron deposition mainly around the portal tracts. This has been highlighted in Figure 1 using a Perl’s stain. She did not have cirrhosis. Venesection on 41 occasions over 2 years resulted in a fall in ferritin to 28 µg/l. Over the subsequent 2 years, venesection was performed on 6 occasions and was associated with a serum ferritin of <50 µg/l. A liver biopsy selleck chemical was repeated 5 years after diagnosis and was normal without any evidence of iron deposition

(Perl’s stain, Figure 2). In hemochromatosis, the number of venesections required to achieve iron depletion is variable but, in one large study, the mean number was 85. Initially, all patients should have venesection at least once per week and, after iron depletion, at intervals of 1-3 months. There is now clear evidence that iron depletion improves prognosis. For example, in the absence of cirrhosis, treated patients with hemochromatosis have a similar life expectancy to that in the general population. Contributed by “
“Esophageal strictures can be caused by acid, radiation, eosinophilic esophagitis (EoE), and caustic injury. Food impaction in a young man warrants evaluation for eosinophilic esophagitis. Savary dilation is the most cost-effective therapy. Stricture dilation should be cautious (rule of threes) early on, especially in caustic, radiation and EoE strictures. Complex/resistant strictures may require steroid injections, incisional therapy, and stent placement. Complications of stricture treatment are rare. “
“We read with great interest the article by Bangarulingam et al.

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