TBA (16S154)

The incidence of liver fibrosis in C282Y homozygous HFE haemochromatosis and its response to venesection

Author(s)

Ben Cole1, Hannah Douglas2, Lana Dixon1, Mark Harbinson3, Geraldine Carroll4, Johnny Cash4, Neil McDougall4

Department(s)/Institutions

1Cardiology Department, Royal Victoria Hospital, Belfast, Northern Ireland 2Cardiology Department, Craigavon Area Hospital, Northern Ireland 3Queen’s University, Belfast, Northern Ireland 4Hepatology Department, Royal Victoria Hospital, Belfast, Northern Ireland

Introduction

Hereditary Haemochromatosis (HH) is one of the most common genetic disorders affecting Caucasians. Patients with HH are at risk of liver fibrosis, however the current incidence of this complication is not well known, nor the effect of venesection on it.

Aims/Background

This study aimed to assess the incidence of liver fibrosis in patients newly diagnosed with HH and its response to venesection using transient elastography (TE).

Method

Between April 2013 and January 2015, 100 consecutive patients newly diagnosed as C282Y homozygotes with haemochromatosis were prospectively recruited. All patients proceeded to TE after initial clinical and biochemical evaluation. The patients were followed until completion of a fortnightly venesection regime, at the end of which they had reached current guideline targets for treatment: Ferritin≤50μg/L and Transferrin saturation<50%. At this point they had repeat TE carried out.

Results

Of the 100 patients recruited, 70 were male. The mean age was 50.0 ± 13.8yrs. The median ferritin at the time of recruitment was 820μg/L (IQR 585-1366). 99 patients had valid TE (>10 valid readings, success rate > 60% and interquartile range to median ratio of < 0.3). The median liver stiffness (LS) assessed by TE was 5.1kPa (IQR 3.8-6.1). Using current guidelines 5 patients had cirrhosis (LS >13kPa), 7 had significant fibrosis (LS 7.1-13Kpa) and the remaining 88 had no significant fibrosis (LS ≤ 7.0kPa). Of the 5 patients with cirrhosis, 4 had a history of current or previous alcohol excess while the remaining patient had multiple risk factors for Non-Alcoholic Fatty Liver Disease (NAFLD). 50 patients have follow-up data available. Overall there was no significant change between pre and post-venesection LS (5.1kPa vs. 5.0kPa; p=0.34).

Conclusions

In current practice it appears hereditary haemochromatosis is infrequently complicated by liver cirrhosis at presentation. Patients who have cirrhosis tend to have other risk factors for liver disease. When assessed by transient elastography, venesection appears to have no effect on liver fibrosis.