Abstract
In a report in 1997, 1 Moirand R Mortaji AM Loréal O Paillard F Brissot P Deugnier Y A new syndrome of liver iron overload with normal transferrin saturation. Lancet. 1997; 349: 95-97 Summary Full Text Full Text PDF PubMed Scopus (310) Google Scholar a French group led by Yves Deugnier described a new clinical-pathological syndrome of primary hepatic iron overload (HIO), in which the transferrin saturation was normal, the frequency of the HLA A3 genotype (which is linked to genetic haemochromatosis) was normal, and serum and liver iron concentrations were raised disproportionately to the increase in serum ferritin concentration. Among the 65 patients with this syndrome, 72% had a body-mass index (BMI) greater than 25 kg/m 2 Reaven GM Pathophysiology of insulin resistance in human disease. Physiol Rev. 1995; 75: 473-486 Crossref PubMed Scopus (1040) Google Scholar , 65% were dyslipidaemic, and 43% had abnormal glucose tolerance-ie, there was a high frequency of some of the features of the insulin-resistance syndrome (IRS). 2 Reaven GM Pathophysiology of insulin resistance in human disease. Physiol Rev. 1995; 75: 473-486 Crossref PubMed Scopus (1040) Google Scholar In a subsequent study of 161 patients, 3 Mendler MH Turlin B Moirand R et al. Insulin resistance-associated hepatic iron overload. Gastroenterology. 1999; 117: 1155-1163 Summary Full Text Full Text PDF PubMed Scopus (435) Google Scholar the same group of investigators broadened the scope of unexplained HIO by including patients with increased transferrin saturation or non-alcoholic steato-hepatitis (NASH-ie, steatosis accompanied by lobular inflammation, sinusoidal fibrosis, and hepatocyte degeneration/necrosis). No patients were homozygous for Cys282Tyr but a higher than expected proportion of individuals were compound heterozygotes for the two main point mutations (Cys282Tyr and His63Asp.) of HFE (the gene associated with genetic haemochromatosis), a finding that is expected in a cohort selected on the basis of iron overload. Also, with this extended definition, the patients with the syndrome of unexplained HIO, mostly middle-aged men, had a high rate of IRS (94%), by the investigators' definition.
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