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[Haemochromatosis screening in 120 patients complaining with persistant fatigue]
D Vital Durand1, S François, R Nové-Josserand
1Service de médecine interne, université Lyon-I, centre hospitalier Lyon Sud, 69495 Pierre-Bénite cedex, France. denis.vital-durand@chu-lyon.fr <denis.vital-durand@chu-lyon.fr>
Aim:
Chronic fatigue is the more frequent symptom identified in the course of hereditary haemochromatosis. A screening for this disorder was carried out in 120 primary care patients consulting for unexplained chronic fatigue.
Subjects And Methods:
Transferrin saturation and serum ferritin were determined in all patients. If transferrin saturation was >or= 45% and serum ferritin >or= 300 microg/l, HFE1 genotyping for mutations C282Y and H63D was completed.
Results:
One hundred and twenty patients were recruited, 19-86 years old, including 62 males and 58 females. 45 patients (38%) presented with serum ferritin >or= 300 microg/l. Thirty two patients (27%) presented with transferrin saturation >or= 45%. Twenty two patients (18%) presented with these two pathological values. Four C282Y/H63D compound heterozygous, one H63D/H63D homozygous, and eight simplex heterozygous (6 H63D and 2 C282Y) genotypes were found. Patients with serum ferritin >or= 300 microg/l were predominantly male (89%), older (57 year) and plethoric (BMI: 26.4) corresponding mainly to dysmetabolic hyperferritinemia.
Conclusion:
None of these 120 patients consulting for unexplained chronic fatigue was found with hereditary haemochromatosis. Therefore observed prevalence is 0, with upper limit of 95% confidence interval at 2.5%. But the high prevalence (38%) of serum ferritin >or= 300 microg/l must be emphasized, corresponding usually to dysmetabolic hyperferritinemia.