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- Title
A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis.
- 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.; Crépin, S N
- Abstract
<bold>Objective: </bold>To determine the optimal means of identifying patients with undiagnosed haemochromatosis.<bold>Design: </bold>Case-control study where cases are defined by the presence of specific clinical diagnoses or symptoms.<bold>Setting: </bold>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.<bold>Subjects: </bold>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.<bold>Main Outcome Measures: </bold>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.<bold>Results: </bold>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.<bold>Conclusion: </bold>Patients presenting to hospital clinics with haemochromatosis associated conditions should be screened biochemically for iron overload. Only those with a serum ferritin >300 microg L-1 or Tsat >40% should subsequently go on to be genotyped for HFE mutations. The patients at greatest risk of having undiagnosed haemochromatosis are those presenting with unstable diabetes, or fatigue and/or arthralgia in the absence of any other explanation.
- Subjects
HEMOCHROMATOSIS; INBORN errors of metabolism; PIGMENTATION disorders; HEMOCHROMATOSIS diagnosis; COMPARATIVE studies; FERRITIN; HISTOCOMPATIBILITY antigens; RESEARCH methodology; MEDICAL cooperation; MEMBRANE proteins; GENETIC mutation; RESEARCH; TRANSFERRIN; EVALUATION research; CASE-control method; GENETIC carriers; GENOTYPES
- Publication
Journal of Internal Medicine, 2003, Vol 253, Issue 2, p217
- ISSN
0954-6820
- Publication type
journal article
- DOI
10.1046/j.1365-2796.2003.01094.x