A Mystery of Joint Pain: Is It Rheumatoid Arthritis (RA) or Hereditary Hemochromatosis (HH)?

关节疼痛之谜:是类风湿性关节炎 (RA) 还是遗传性血色素沉着症 (HH)?

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Abstract

A 58-year-old lady with a previous diagnosis of rheumatoid arthritis (RA) was referred to Rheumatology to manage her joint pains. On evaluation, it was noted that the lady did not have any signs of synovial inflammation. The patient had a negative anti-cyclic citrullinated peptide (anti-CCP) (<0.5) and negative rheumatoid factor (RF) (<10) together with high ferritin (1,507 µg/L) which led to consideration of hereditary hemochromatosis (HH) rather than RA. She was then referred to Hematology for regular venesection which settled her symptoms. This case report highlights the importance of considering HH as a differential diagnosis in patients with chronic arthritis particularly if there are no clinical signs and negative tests for RA. More retrospective studies will be needed to quantify how many cases of hemochromatosis arthropathy have been mistakenly diagnosed as RA.

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