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Case report
Hereditary haemochromatosis presenting to rheumatology clinic as inflammatory arthritis
  1. Ryan Malcolm Hum1,2 and
  2. Pauline Ho1,2
  1. 1The Kellgren Centre for Rheumatology, Manchester University NHS Foundation Trust, Manchester, UK
  2. 2NIHR Biomedical Research Centre, The University of Manchester, Manchester, UK
  1. Correspondence to Dr Ryan Malcolm Hum; ryan.hum{at}doctors.org.uk

Abstract

Hereditary haemochromatosis (HH) is the most commonly identified genetic disorder in Caucasians. HH has a wide variety of clinical manifestations. As such, the presenting complaint in new diagnoses of HH can be non-specific such as fatigue; however, joint symptoms such as arthralgia are also common. These joint symptoms closely mimic the features of other musculoskeletal diseases such as rheumatoid arthritis (RA). Early diagnosis of HH is key to prevent long-term irreversible complications such as liver damage, diabetes and degenerative joint disease. We present a case of HH which was initially suspected to be early RA, with ultrasound findings of active synovitis. High clinical suspicion, a raised serum ferritin followed by genetic testing for C282Y mutation confirmed the diagnosis of HH. The synovitis responded to corticosteroids and was suspected to be due to pseudogout a known complication of HH. Early diagnosis and treatment resulted in a favourable outcome.

  • genetics
  • gastroenterology
  • rheumatology
  • musculoskeletal syndromes
  • rheumatoid arthritis

Data availability statement

Data is available upon reasonable request to the corresponding author.

https://doi.org/10.1136/bcr-2021-246236

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    Data availability statement

    Data is available upon reasonable request to the corresponding author.

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    Footnotes

    • Twitter @DrRyanHum

    • Contributors RMH and PH contributed equally to the planning, conduct, reporting, conception, design, acquisition of data, analysis, interpretation of data and writing of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.RMH holds an Academic Clinical Fellowship funded by the National Institute for Health Research (NIHR) through the Integrated Academic Training (IAT) Programme. The views expressed in this publication are those of the authors and not necessarily those of the NHS, the National Institute for Health Research or the Department of Health.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.