Du diabète bronzé à l'hémochromatose HFE : un condensé de l'histoire de la médecine moderne

Anatomo-clinical approaches, histochemical studies, statistics, biological analysis, genetics and molecular biology were the main steps of the modern medicine who permitted to fully elucidate what was described as « diabète bronzé ». Firstable the Trousseau's report of a case of « diabète bronzé » in 1865 was followed by Troisier's account of « dia-bète bronzé et cirrhose pigmentaire » in 1871. In 1889, von Recklinghausen identified excess iron in tissues of persons who had « Hämochromatose » (hemochromatosis). The additional cases reported during the next decades were carrefully compiled by Sheldon who suggested that the disorder is an inborn error of iron metabolism, and rejected the common idea that diabetes was causal. In 1975, Simon, from Rennes (France), reported that the genetic factor associated to hemochromatosis was closely linked to the HLA-system. Twenty years later it was demonstrated that the disease was caused by genetic mutations of HFE, a gene located on the chromosome number 6 coding for a protein participating in the complex regulation of iron metabolism explained by molecular biology.