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Rev Med Interne. 2014 Mar;35(3):160-5. doi: 10.1016/j.revmed.2013.02.041. Epub 2013 Apr 6.

[Hereditary hemochromatosis: presenting manifestations and diagnostic delay].

[Article in French]

Author information

Service de pathologie, hôpital E.-Muller, 20, rue du Dr-Laennec, BP 1370, 68070 Mulhouse cedex, France. Electronic address:
European Federation of Associations of Patients with Haemochromatosis, 4, rue Paul-Demange, 78290 Croissy-sur-Seine, France.
Établissement français du sang, 20, avenue du Stade-de-France, 93210 La Plaine Saint-Denis, France.
Laboratoire de biostatistique, faculté de médecine, 4, rue Kirschleger, 67085 Strasbourg cedex, France.
Service de hépato-gastro-entérologie, hôpital Bicêtre, AP-HP, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre cedex, France.
Service des maladies du foie, CHU Ponchaillou, 2, rue Henry-Le-Guilloux, 35033 Rennes cedex 9, France.



Hereditary hemochromatosis is characterized by an excessive absorption and progressive accumulation of iron in the liver, the pancreas, the heart, and the joints. Tiredness and joint manifestations occur usually before hepatopathy, diabetes or cardiopathy. Such common and unspecific symptoms seem to be largely unknown and important diagnostic delays have been reported. The aim of this study was to investigate the discovery circumstances and the diagnostic delay.


A survey was carried out amongst French patients with C282Y homozygous hemochromatosis who were contacted through patients associations or blood centers.


The questionnaire was answered by 374 patients. Mean age at diagnosis was 48.6±11.9years. In 53% of the cases, the serum level of ferritin was greater than 1000 μg/L. Diagnosis was based on family genetic survey (29%), or fortuitous analyses showing an abnormal serum ferritin (26%), or clinical manifestations (45%). Main complaints were joint pain, tiredness or liver disease. Only 2.1% consulted for diabetes, cardiopathy or changed complexion. Time to diagnosis was lower than 1 year for 98% of patients who presented with fatigue but from 1 to 15 years for 23.4% and 29% of patients who presented with arthropathy and hepatopathy, respectively.


For 55% of patients, diagnosis was based on familial genetic survey or fortuitous abnormal results of blood samples. An initial serum level of ferritin greater than 1000 μg/L was a factor of severity for 50% of patient. These two elements must be taken into account to consider a population mass screening. Long time to diagnosis required a sensitization of the population to be aware of the clinical manifestations of hemochromatosis.


Arthropathie; Arthropathy; C282Y homozygosity; Diagnostic delay; Délai diagnostique; Ferritinémie; Hereditary hemochromatosis; Homozygotie C282Y; Hémochromatose héréditaire; Serum ferritin

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