A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis

.  Cadet E, Capron D, Perez AS, Crépin SN, Arlot S, Ducroix J‐P, Dautréaux M, Fardellone P, Leflon P, Merryweather‐Clarke AT, Livesey KJ, Pointon JJ, Rose P, Harcourt J, Emery J, Sueur JM, Feyt R, Robson KJH, Rochette J (Université Jules Verne de Picardie, Amiens, France; MRC Molecular Haematology U...

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Published in:Journal of internal medicine 2003-02, Vol.253 (2), p.217-224
Main Authors: Cadet, E., Capron, D., Perez, A. S., Crépin, S. N., Arlot, S., Ducroix, J.‐P., Dautréaux, M., Fardellone, P., Leflon, P., Merryweather‐Clarke, A. T., Livesey, K. J., Pointon, J. J., Rose, P., Harcourt, J., Emery, J., Sueur, J. M., Feyt, R., Robson, K. J. H., Rochette, J.
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Case-Control Studies
chronic fatigue and arthralgia
diabetes
Female
Ferritins - blood
genetic testing
haemochromatosis
Hemochromatosis - diagnosis
Hemochromatosis - genetics
Hemochromatosis Protein
Heterozygote
Histocompatibility Antigens Class I - genetics
Homozygote
Humans
Male
Medical sciences
Membrane Proteins - genetics
Metabolic diseases
Metals (hemochromatosis...)
Middle Aged
Mutation - genetics
Other metabolic disorders
serum iron measurements
Transferrin - analysis
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Summary:.  Cadet E, Capron D, Perez AS, Crépin SN, Arlot S, Ducroix J‐P, Dautréaux M, Fardellone P, Leflon P, Merryweather‐Clarke AT, Livesey KJ, Pointon JJ, Rose P, Harcourt J, Emery J, Sueur JM, Feyt R, Robson KJH, Rochette J (Université Jules Verne de Picardie, Amiens, France; MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK; University of Oxford, Institute of Health Sciences, Oxford, UK; University of Cambridge, Institute of Public Health, Cambridge, UK; Biobanque de Picardie, Amiens, France; and Centre d'examens de santé de la Somme, Amiens, France). A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med 2003; 253: 217–224. Objective.  To determine the optimal means of identifying patients with undiagnosed haemochromatosis. Design.  Case–control study where cases are defined by the presence of specific clinical diagnoses or symptoms. Setting.  Primary care patients were recruited from three Oxfordshire practices and secondary care patients were recruited from those patients attending specialist clinics in Amiens University Hospital. Subjects.  A total of 569 patients recruited via hospital clinics and 60 primary care patients (recruited from 4022 consultations) presenting with the following haemochromatosis associated conditions, diabetes, arthralgia/chronic fatigue, osteoporosis or arthropathy were studied. The control group, a total of 991 healthy volunteers, were recruited through a Health Appraisal Centre. Patients and controls were included in the study if they or their family members had not previously been diagnosed with hereditary haemochromatosis. Main outcome measures.  Serum ferritin concentration, transferrin saturation (Tsat) and presence of HFE mutations, C282Y and H63D. The check‐up in controls consisted of a questionnaire, clinical examination, biochemical tests and screening for the presence of the C282Y and H63D mutations. Results.  Patient groups presenting with unstable diabetes or chronic fatigue and arthralgia together with a raised serum ferritin concentration showed an enrichment in the haemochromatosis‐associated genotype HH/YY, odds ratio (OR) = 40.1, confidence interval (CI) = 8.0–202.1 and OR = 103, CI = 22.9–469.7, respectively. Conclusion.  Patients presenting to hospital clinics with haemochromatosis associated conditions should be screened biochemically for iron overload. Only those with a serum f
ISSN:0954-6820
1365-2796
DOI:10.1046/j.1365-2796.2003.01094.x