[Practical management of HFE hemochromatosis].
HFE-linked, or type 1, hemochromatosis is by far, in the causasians, the most frequent form of chronic iron overload of genetic origin. Its practical management has been recently defined by the French Agency "Haute Autorité de santé". It rests upon a new classification of phenotypic expression. This staging comprises 5 grades according to the combined results of plasma transferrin saturation, ferritinemia and clinical data. The extension of the initial work-up as well as the follow-up modalities is adapted to the staging. A liver biopsy remains indicated only in case of suspected cirrhosis. Venesection therapy is the reference treatment. It is indicated when grade is > or = 2 (i.e. when both transferrin saturation and ferritinemia are increased). The phlebotomy volume should be adapted to the patient's weight. The goal of depletion treatment is to obtain and maintain ferritinemia < or = 50 microg/L. Venesections, especially for maintenance therapy, can be performed at home, which requires a close coordination between the various medical and paramedical partners. Family screening, based upon HFE test, transferrin saturation and serum ferritin, is highly recommended.
Brissot
Pierre
P
Service des maladies du foie, Inserm U-522, hôpital Pontchaillou, 35033 Rennes Cedex 9. pierre.brissot@univ-rennes1.fr
Bismuth
Michaël
M
Peynaud-Debayle
Edith
E
de Bels
Frédéric
F
D001706:Biopsy; D005260:Female; D005293:Ferritins / Q000032:analysis; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006432:Hemochromatosis / Q000097:blood / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000473:pathology; D008297:Male; D008565:Membrane Proteins; D010641:Phenotype; D018962:Phlebotomy; D012307:Risk Factors; D013997:Time Factors; D014168:Transferrin / Q000032:analysis
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins