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264. Distribution of Haemochromatosis Arthropathy. High Ankle and Midfoot Prevalence; a Diagnostic Clue?

Background: Long delays in diagnosis of haemochromatosis are frequent and lead to an adverse effect on hepatic and cardiac outcome. Arthropathy is a highly prevalent and early feature, which could act as a trigger for diagnosis if sufficiently distinctive. We conducted a survey of patients with haemochromatosis to assess the prevalence and distribution of joint symptoms and their relation to the diagnosis. Methods: A questionnaire was sent to members of the UK Haemochromatosis Society ( (cid:2) 1300) in December 2013. Questions assessed how the diagnosis of haemochromatosis was made; symptoms, duration, the prevalence and distribution of affected joints and the role of a rheumatologist. Results: Questionnaires were returned by 470 people with haemochromatosis, 97% white, 53% male. The genotype was C282Y homozygous 52%, C282Y/H63D heterozygous 7%, C282Y/wild-type heterozygous 5%, unknown 33%. The diagnosis was made at a mean age of 56 years, following family member screening in 20%, well man/ woman screening in 23% and as result of symptoms in 57%. At diagnosis the most frequent symptoms attributed to haemochromatosis were fatigue 65% and joint pain 60%, with a mean duration of 8 years (0–65) and mean ferritin 1752 m g/l. The diagnosis was most frequently made by a general practitioner (38%), followed by a haematologist (24%), a gastroenterologist (21.5%) and a rheumatol-ogist (7%). 88% of respondents reported joint pain, stiffness or swelling. Joint symptoms preceded the diagnosis of haemochromatosis by more than 5 years in 47%, by more than 1 year in 78.5% and post-dated the diagnosis in 14.5%. The most prevalent areas affected were hand or wrist (66%),