Introduction Hereditary Haemochromatosis (HH) remains the commonest genetic disorder in populations of northern European origin with a prevalence of 1 per 220–250.1 The HH service in Tallaght hospital is an expanding nurse delivered service.
Aims/Background This audit reviews the service in terms of patient demographics, investigations and hepatocellular carcinoma (HCC) surveillance.
Method Data was collected on patients attending the HH service in 2011 who underwent genetic testing.
Results A total of 140 patients were identified; 107 (76%) were male and 33 (24%) female. Median age at diagnosis was 48 and 56 years, respectively. Their genetics were; 101 (74%) C282Y homozygote, 6 (4%) H63D homozygote, 20 (14%) compound heterozygote, 5 (3%) C282Y heterozygote, 2 (1%) H63D heterozygote and 6 (4%) had normal genetics. Mean ferritin and transferrin saturations at diagnosis were 980 µg/l and 75%, respectively. Liver function tests (LFTs) were abnormal at diagnosis in 93(66%) patients. Liver biopsy was performed on 45 patients according to established selection criteria for biopsy. Histology revealed mild fibrosis in 5 patients, bridging fibrosis in 4 and cirrhosis in 4. Patients received monitored weekly venesections as tolerated to achieve a target ferritin<50 µg/l, followed by 3 monthly ferritin monitoring longterm. Patients with cirrhosis and advanced fibrosis were not receiving the recommended HCC surveillance as per AASLD guidelines.2 3
Conclusion Appropriate HH management including HHC surveillance for cirrhotic patients and those with advanced fibrosis in accordance with AASLD guidelines requires close patient monitoring and long term follow up. A specialist dedicated nurse delivered service helps to provide this.