Screening for genetic haemochromatosis in a rheumatology clinic

Background: Recent data indicate that the prevalence of genetic haemochromatosis (GH) is greater than previously recognised and suggest that this disease is underdiagnosed. Aims: To determine the prevalence of GH in a rheumatology clinic population. Methods: Over a 12 month period 339 consecutive patients, mean age 67.0 years, attending a rheumatology clinic were screened for iron overload. Results: Twenty three patients had elevated initial screening tests (transferrin saturation [Tf %] > 55% ferritin > 500 μg/L). Repeat fasting Tf % and ferritin concentrations were obtained in 20 of these patients. Twelve patients had persistently elevated results, and of these patients four had liver biopsy tissue hepatic iron indices consistent with GH. One patient in the group had the diagnosis established by liver biopsy just before the screening commenced. Thus, the prevalence of GH in this population was 1.5% - five times that anticipated for the general population. Three of the patients with GH presented with an arthropathy which was not characteristic of the disease. The increased prevalence of GH in this group of patients with peripheral arthropathy provides an excellent justification for the routine screening of patients with peripheral arthritis for the exclusion of iron overload.