Pilot study of early diagnosis of hereditary haemochromatosis through systematic case finding in primary care.

Objectives: To test the feasibility of adopting and evaluating a systematic case-finding approach to the early diagnosis of hereditary haemochromatosis (HHC) in primary care, and to estimate the prevalence of presenting conditions for which HHC testing could be offered.

Methods: Systematic identification of, and genotyping for, C282Y and H63D mutations in patients presenting in primary care with possible symptoms of HHC during a 4-week period to 1 of 14 doctors in Oxfordshire.

Results: From a total of 4,022 consultations, 169 (4.2%; 95% CI: 3.6-4.8) adult patients had possible symptoms of HHC. Of these, 88 (2.2%; 95% CI: 1.7-2.6) were aged 25-70 and were offered genotyping for HHC, of whom 60 agreed to be tested. There were no C282Y homozygotes (0%; 95% CI: 0-6.0), no C282Y/H63D compound heterozygotes (0%; 95% CI: 0-6.0), 2 H63D homozygotes with normal iron indices (3.3%%; 95% CI: 0.4-11.5) and 3 C282Y heterozygotes (5.0%; 95% CI: 1.0-13.9).

Conclusions: This study raises doubts about a case-finding approach to early diagnosis of HHC in primary care. The non-specific nature and high prevalence of possible symptoms of HHC in primary care mean that many patients would require testing to identify a single case. Whether this offers a more cost-effective alternative to population screening requires further study.