A retrospective audit of haemochromatosis in north tipperary (Nenagh general hospital)

Introduction: Haemochromatosis (HH) is a common inherited condition which causes clinical iron overload.

Aims: The aim of our study was to observe age and sex distribution of HH, presenting symptoms, family history and audit of management of patients with HH in our unit.

Methods: Retrospective audit was performed in patients diagnosed with HH between 2001 and 2004.

Results: Forty-four patients were included in the audit. Mean age of presentation was 58.5 years. 63.6% patients were between 40 to 60 years of age. 38.6% presented with abnormal LFTS. 29.5% presented with generalized weakness. 2 patients presented with depression, 4 patients complained of dyspepsia. 2 patients presented with new onset diabetes mellitus.

Conclusion: Serum iron studies and LFTS in patients with non specific symptoms may help to detect HH at early stages. In this audit patients did not routinely undergo liver biopsy, cardiac echo or comprehensive endocrine work up; a protocol for haemochromatosis management is being deveploped to ensure full work up of patients, however increased awareness of this condition means fewer patients are presenting with evidence of end organ damage, suggesting that work up can be tailored to avoid over investigation.