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Indexed/Abstracted in: BIOSIS Previews, EMBASE, Scopus, Emerging Sources Citation Index
Online ISSN 1827-1812
Guala A. 1, Lo Giudice G. 2, Mutti L. 2, Manfrinato C. 3, Cadario G. 3, De Vecchi R. 4, Beltrametti P. 5, Gruppo Emocromatosi Ereditaria Asl 11 1
1 Ambulatorio di Genetica Clinica Ospedale Castelli, Verbania
2 SOC di Medicina Polo Sanitario Nord Ospedale SS Pietro e Paolo, Borgosesia, Vercelli
3 SOC di Medicina Polo Sanitario Sud Ospedale S. Andrea, Vercelli
4 SOC Laboratorio Analisi Polo Sanitario Nord Ospedale SS Pietro e Paolo, Borgosesia, Vercelli
5 SOC di Reumatologia Ospedale S. Andrea, Vercelli
Aim. Analysing the epidemiological data regarding cases of hereditary haemochromatosis (HH) diagnosed within the Azienda Sanitaria Locale 11 (Local Health Unit 11) of the Region of Piedmont, a prevalence of 1 case every 10000 inhabitants was observed, much lower than the expectation of 2.5 per 1000. On the basis of this information a project was set up with General Practitioners (GP) to increase their awareness of the question and involve them in screening patients at risk.
Method. Two meetings were organised in autumn 2002 with the 149 GPs of ASL 11, whose territory contains about 180,000 inhabitants, 21,000 of them below the age of 18. Recent findings on diagnostic techniques and therapeutic possibilities in the field of HH were outlined and the potential for screening subjects at risk (diabetes type 2, chronic liver disease, myocardiopathy with onset prior to the age of 50, impotence) were described, the GPs being invited to identify such subjects among their patients for a recruitment period limited to just two months. Having identified a subject at risk, the physician was asked to fill out a data form and take regular measurements of transferrin saturation (cut-off 45%) and ferritinaemia (female cut-off >300, male >400 µg/mL). In the presence of values exceeding the cut-off, the physician was to request genetic typing to search for the most frequent mutations of genes HFE, TFR2 and FPN1. For patients recognised to be suffering from HH, genetic consultancy was set up and extended to the whole family nucleus. The cost budgeted for each patient was 14.5 euros: sideraemia 1.50 euros, transferrin 4.0 euros, ferritin 9.0 euros; the cost of the subsequent genetic test was 245 euros per patient.
Results. Of the 149 physicians involved, only 12 supported the project, covering a sample of about 16,000 patients. Of these patients, 96 were suffering from diabetes type 2 (52M), 50 from chronic liver disease (31 M) and 2 from myocardiopathy (2 M). In this group, 9 subjects were found to be suffering from the as yet unrecognised HH: 5 in the diabetic subgroup (5.2%, 4 M) and 4 among the liver disease victims (8%, 2 M). The cost of identifying each of the 9 patients suffering from HH was 401 euros. Genetic consultancy extended to family members made it possible to identify a further 2 patients with asymptomatic HH. In the following 2 years (2004-2005) 8 further diagnoses of HH were carried out and another 3 presymptomatic family members were identified. The GPs involved in the study were responsible for 6 of the new diagnoses. The prevalence of HH in our territory therefore shifted from 18 cases out of 180,000 prescreenings (1 out of 10,000) to 29 of 180,000 postscreenings (1 out of 6,206) and at end-2005 to 40 cases of 180,000 (1 out of 4,500).
Conclusions. The results of our project have shown that identifying patients with unrecognised HH in the course of the everyday practice of GPs can be done with the minimum expenditure of time, at low cost and with the important fall-out of secondary prevention for family members.