PubMed · 14791263
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1950-11-01. [Practical notes].. https://pubmed.ncbi.nlm.nih.gov/14791263/
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There is increasing evidence that moderately elevated body iron stores, below levels commonly found in genetic hemochromatosis, may be associated with adverse health outcomes. Genetic hemochromatosis, characterized by transferrin saturation (TS) greater than 45%, is most often linked to homozygosity of the HFE C282Y allele. The phenotype is also modulated by mutations of more recently discovered genes (including ferroportin, hemojuvelin, hepcidin, and transferrin receptor) and environmental factors (including alcohol, viruses, diet, blood loss). Iron overload without hemochromatosis is characterized by high levels of serum ferritin and normal TS, as seen in dysmetabolic hepatosiderosis. Elevated serum ferritin levels predict incident type 2 diabetes in prospective studies and have been associated with hypertension, dyslipidemia, glucose tolerance disturbances, central adiposity, and metabolic syndrome. High ferritin levels are not synonymous with iron overload and may in some cases be a simple marker of insulin resistance.
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PURPOSE OF REVIEW: The purpose of this review is to identify and discuss recent findings related to inherited metabolic disorders of the liver that increase our understanding of the pathophysiology and treatment for hemochromatosis and other iron overload disorders, Wilson disease and alpha one antitrypsin deficiency. RECENT FINDINGS: The main theme in the recent discoveries for both iron overload disorders and Wilson disease is our increasing understanding that the phenotypic expression of these disorders are greatly influenced by genes involved in the metabolic pathways for these metals, or influence the progression of liver disease independent of metal metabolism. For example, the role of hepcidin dysregulation in hemochromatosis has been a surprising discovery that provides some mechanistic understanding for the increased iron absorption that is present in this disorder. SUMMARY: Given the recent explosion of information on iron and copper metabolism and the cellular processing of alpha one antitrypsin, the highlights reviewed in this article will help the reader keep up to date with the current understanding of these diseases and potential future approaches to their treatment.