Management of Hereditary Haemochromatosis: A Retrospective Audit at Cork University Hospital

Background: Hereditary haemochromatosis (HH) has a high prevalence (1 in 200) in Celtic populations. Guidelines are available for the management of this disorder. However patients are managed by different specialties with varying protocols.

Aims: To examine the population of patients diagnosed with HH in Cork University Hospital and to perform an audit of the management of these patients.

Methods: A retrospective audit was performed where patients diagnosed with HH since January 2000 were identified. Charts were reviewed for the following characteristics: age; sex; specialty by which they are managed; ferritin and liver function tests at diagnosis; genetic test result; liver biopsy; venesection regime; extrahepatic features.

Results: Thirty eight patients were included in the audit; mean age at diagnosis 52 years. 63% of the patients were managed by the gastroenterology service. C282Y homozygotes made up 71% of the patient group. 67% of the patients had abnormal LFT's at diagnosis; 39% of patients underwent a liver biopsy. 10 patients had a fasting glucose checked at diagnosis. Venesection regimes varied in frequency and introduction of maintenance venesection.

Conclusions: There was a relatively low rate of liver biopsy performed in this group, patients being more likely to have biopsy if treated by the gastroenterology service. Venesection frequency varied, with these decisions often made by junior staff at venesection appointments. Our recommendations include a hospital protocol for the management of hereditary haemochromatosis and we would aim that venesections are performed in a single center, managed by a specialist nurse.