Foot and Ankle Involvement in Haemochromatosis Arthropathy

NewsBot · Nov 15, 2016

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Distribution of Haemochromatosis Arthropathy. High Ankle and Mid Foot Prevalence; A Diagnostic Clue ?
Patrick Kiely
2014 ACR/ARHP Annual Meeting

Background/Purpose . Long delays in diagnosis of haemochromatosis are frequent and lead to an adverse affect 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 (~1500) 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% (Fig 1), with a mean duration of 8 years (0-65) and mean Ferritin 1752 mg/L. The diagnosis was most frequently made by a GP 38%, Haematologist 24%, Gastroenterologist 21.5% and Rheumatologist 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%, ankle or mid foot 49%, and knee 44% (Fig 2). In the hands the prevalence of symptoms was 1st CMC 60%, wrist 52%, MCP 47%, PIP 48%, and DIP joints 41%. No formal arthritic diagnosis was given to 45%, OA 29%, haemochromatosis arthropathy 11.5%. Dupuytrens disease was reported by 13% of men and 8% of women. Venesection was reported to have helped joint symptoms in 5%, made no impact in 20% and in 51% new joints had become affected following de ironing. A negative impact on employment from arthropathy was reported by 21%, with 9% losing their job.

Conclusion . In haemochromatosis, joint symptoms are highly prevalent at diagnosis, with the ankle and mid foot involved in 49%. In addition to MCP joint disease, an osteoarthritis-like presentation at a relatively young age in the hind or mid foot might be a distinguishing feature to prompt investigations leading to an earlier diagnosis.
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Admin2 · Nov 15, 2016

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Nail surgery in haemochromatosis

NewsBot · Apr 26, 2017

MRI hindfoot characteristics of genetic haemochromatosis, a case control study characteristics of genetic haemochromatosis: a case control study
Alison Elstob et al
British Society for Rheumatology Conference April 27, 2017, 10:30 - 11:30 AM

Background: Patients with genetic haemochromatosis (GH) develop an arthropathy (HA) resembling primary OA. HA may be distinguished from primary OA by high prevalence of MCP and ankle joint disease, as primary OA at these sites is unusual. As the time from first joint symptoms to diagnosis of GH is often delayed 5 years or more, we have investigated MRI features of the hindfoot that might distinguish GH cases from primary OA.
Methods: We conducted a retrospective case-control study comparing 30 MRI studies of GH patients with hindfoot arthropathy with 30 gender and age matched controls with primary hindfoot OA. GH cases were identified from a specialist clinic and controls from a search of the St George’s PACS. Images were anonymised and scored by two MSK radiologists using a semiquantative tool adapted from the MRI osteoarthritis knee score (MOAKS). Scores were generated for bone marrow lesions (BML)/cysts for size, number and % that were BML as distinct from cysts (0 - 3). Articular cartilage was scored for presence and extent (0 - 3) of full thickness loss and osteophytes by size (0 - 3). The primary outcome was BML/cyst size. Paired Student’s T test and Chi squared were used to compare outcome measures between GH and paired controls.
Results: The BML/cyst % score indicated that in both GH and OA controls these lesions were predominantly cysts. The score for BML/cyst size was significantly higher in the ankle joint for GH cases compared to paired controls (p=0.001) but not in the middle or posterior subtalar joints. In the ankle joint, GH scores were significantly higher than paired controls for 5 of 7 secondary outcomes, see Table (p<0.05), in the middle subtalar joint for 3 secondary outcomes (p<0.05) and for no measures in the posterior subtalar joint.
Conclusion: The finding of both numerous and large cysts on MR imaging of the ankle should raise the suspicion of GH, prompting measurement of ferritin and transferrin saturation. Other MRI features of potential diagnostic value for GH include large osteophytes and the presence of extensive full thickness cartilage loss in the ankle and middle subtalar joints.
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Foot and Ankle Involvement in Haemochromatosis Arthropathy

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Foot and Ankle Involvement in Haemochromatosis Arthropathy

NewsBot The Admin that posts the news.

Admin2 Administrator Staff Member

NewsBot The Admin that posts the news.

Dysplasia epiphysealis hemimelica (Trevor's disease) in the foot and ankle

Sudden exertions causing acute pain at ankle/top of foot

Workers' Compensation After Foot and Ankle Surgery

Burning pain outer left foot/ankle

Mental health and outcomes of foot and ankle surgery

Metal hypersensitivity in foot & ankle surgery

Benefits of weightbearing CT in the foot and ankle

Share This Page

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