E064 A rare hereditary haemochromatosis type three (3) related arthritis

Abstract

Abstract Background/Aims Arthritis is a common manifestation in hereditary haemochromatosis (HHC). Haemochromatosis arthropathy frequently involves small joint of hands especially the metacarpo-phalangeal joints (MCPJs) and hence is one of the differentials when assessing for rheumatoid arthritis, psoriatic arthritis along with osteoarthritis but requires a high index of suspicion. We report a case of Haemochromatosis arthropathy where the arthropathy was due to type 3 hereditary haemochromatosis (HHC) which is a much rarer form and requires specialist genetic testing. Methods A 38-year-old lady was referred with abnormal iron profile and ten-month history of small joint arthralgia mainly affecting the index and middle finger in right hand with occasional swelling. She had a normal body mass index with minimal alcohol intake. Clinical examination showed low grade synovitis in index finger metacarpo-phalangeal joint (MCPJ). Blood investigations for Rheumatoid arthritis and connective tissue diseases were negative with normal CRP & ESR, Ferritin was slightly raised at 236 and transferrin saturation was 100% on two successive occasions, LFTs were normal. Xray of hands showed slight narrowing of 2nd MCPJ and US hands showed thickened synovium but no erosions or Doppler activity in 2nd MCPJ. Results Based on these, possible hereditary haemochromatosis (HHC) arthropathy was considered. By that time, she had been seen by the hepatology service where no evidence of iron deposition in other organs was found. Surprisingly her genetic testing for hereditary haemochromatosis (HHC) (Cys282Y/H63D in HFE gene) was negative resulting in most common HFE-related HHC excluded. Iron studies were repeated which were still raised, hence after discussion with hepatologist and biochemist the plan was made to investigate for rarer form of hereditary haemochromatosis (HHC), genetic tests showed that she had TFR2 variant mutation which would be consistent with type 3 hereditary haemochromatosis (HHC), which is inherited in autosomal recessive pattern. Venesections were started with ferritin levels improving to less than 50 with plans to monitor arthralgia to see if there is any improvement over time. Conclusion Metacarpo-phalangeal joints (MCPJs) involvement is common in various arthropathies. This case highlights the importance of considering other, much rarer forms of hereditary haemochromatosis (HHC) as treatment will help in preventing iron deposition in other organs like liver, heart, pancreas etc. These conditions are very rare and there is need to create awareness of genetic testing as hereditary haemochromatosis (HHC) arthropathy does present not uncommonly to rheumatology services and requires dedicated non-HFE molecular panel. Disclosure H. Umair: None. M. Kazmi: None.