Objective: To determine the frequency and character of arthropathy in hereditary haemochromatosis (HH) and to investigate the relationship between this arthropathy, nodal interphalangeal osteoarthritis and iron load.

Methods: Participants were recruited from the community by newspaper advertisement and assigned to diagnostic confidence categories for HH (definite/probable or possible/unlikely). Arthropathy was determined by use of a predetermined clinical protocol, X-rays of the hands in all participants and X-rays of other joints where clinical criteria were met.

Results: An arthropathy considered typical for HH was observed in 10 of 41 definite or probable cases of HH (24%), all of whom were homozygous for the C282Y mutation in the HFE gene. MCP2-5 or bilateral Hip or bilateral Ankle arthropathy was significantly more frequent in definite/probable HH (10 of 41) than in possible/unlikely HH (2 of 62, P<0.0024). Arthropathy in definite/probable HH was more common with increasing age and was associated with ferritin concentrations greater than 1000 mcg/L at the time of diagnosis (OR = 14.0, 95%CI 1.30–150.89, P=0.03). A trend towards more phlebotomy episodes was also observed amongst those with arthropathy, but this was not statistically significant (OR = 1.03, 95%CI 0.99–1.06, P=0.097).There was no significant association between arthropathy in definite/probable HH and a history of intensive physical work (P = 0.12).

Conclusions: An arthropathy compatible with that commonly attributed to HH was found to occur in 24% of definite/probable cases of HH. The association observed between this arthropathy, homozygosity for C282Y and serum ferritin concentrations at the time of diagnosis suggests that iron load is likely to be a major determinant of arthropathy in HH and more important than occupational factors.