[Hereditary hemochromatosis, the clinician point of view].
Hereditary hemochromatosis (HH) is an autosomal recessive disease whose most common form is due to homozygosity for the C282Y mutation of the HFE gene. Its prevalence is estimated between 1/200 and 1/600 in France. This represents potentially several thousands of affected people. The disease is characterized by progressive iron overload, which can lead to irreversible parenchymal tissue damage. When clinical signs become evocative the disease is already at an advanced stage and years of life are probably lost. It is therefore important to detect the disease early. The clinician, either general practitioner or specialist, plays a pivotal role in the diagnostic process: he/she receives complaints of patients, prescribes complementary investigations, conducts the treatment and must organize of the family screening. Based on the French recommendations and on literature data, this paper presents the main lines of management of the patient as responses to the eight following questions: 1) Under what circumstances should the clinician suspect HH? 2) How to conduct investigations in the presence of high ferritin levels? 3) What manifestations must be feared with the worsening of iron overload? 4) What medical evaluation should be performed when the diagnosis of HH has been made? 5) How to conduct iron depletive treatment in practice? 6) How to monitor the treated patient? 7) What is the place of iron-chelating drugs in the treatment of HH? 8) How to take charge of the family members?
Laboratoire d'hématologie, CHU de Toulouse. corberand.j@chu-toulouse.fr
Joël
J
Corberand
Patricia Aguilar
PA
Martinez
Jean-Pierre
JP
Vinel
Gérard
G
Dine
Henri
H
Michel
D003266:Continuity of Patient Care; D042241:Early Diagnosis; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D018962:Phlebotomy
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D007502:Iron Chelating Agents; D008565:Membrane Proteins