Introduction HH is a common inherited disorder of iron metabolism. We reviewed risk factors for cirrhosis, screening tests, rates of end organ damage and the outcome of patients treated with venesection.
Methods A retrospective analysis of 167 patients with HH in the Royal Infirmary of Edinburgh attending the venesection service in 2013 and 2014.
Results 118 males and 49 females were identified with a mean age of 56 (range 19–83). 79 (47%) had end-organ involvement at presentation: 18% cirrhosis, 17% endocrine, 10% arthropathy, 1% cardiac, 1% skin. The most common endocrine problems were diabetes and hypogonadotropic hypogonadism. Arthropathy was generalised and mostly involved the small joints. 50% had deranged liver function tests (LFTs) at diagnosis. With therapeutic venesection, LFTs improved in 93% whereas arthropathy improved in only 31%.
Of the 30 patients with cirrhosis, 26 had serum ferritin (SF) >1000 μg/L at presentation, 25 were C282Y homozygotes, 3 cases progressed to hepatocellular carcinoma, 22 had other risk factors for liver disease [2 Hepatitis C, 13 alcohol and 7 non-alcoholic fatty liver disease (NAFLD)]. Serum Hyaluronic acid (HA), an indicator of hepatic fibrosis, was measured in 73 patients: a normal level reliably excluded cirrhosis [negative predictive value 97.8% (CI 88.7 to 99.9%)].
After completion of the therapeutic phase (SF < 100 μg/L), subsequent venesection requirements were variable: 9 patients did not require venesection for more than 1 year.
With a median follow-up of 6 years, no uncomplicated cases at presentation venesected per protocol developed end organ damage.
Conclusion It is important to identify patients with cirrhosis, particularly if other risk factors for liver disease are present. HA is a useful screening test for cirrhosis in this setting. Protocol venesection is highly successful in preventing end-organ damage: uncomplicated patients at presentation would be suitable for a virtual clinic to lessen the burden on out-patient services.
Disclosure of Interest None Declared