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Haemochromatosis CPPD Mechanism — RACP Adult Medicine MCQ

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HardRheumatologyHaemochromatosis CPPD MechanismRACP Adult Medicine

A 55-year-old develops recurrent calcium-pyrophosphate arthritis and has bronze skin, diabetes and hepatomegaly. Which metabolic investigation is most relevant?

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Correct answer: EMeasure transferrin saturation and ferritin for haemochromatosis

The best answer is “Measure transferrin saturation and ferritin for haemochromatosis”. Haemochromatosis is a classic metabolic association of CPPD, particularly when disease is premature or accompanied by diabetes, pigmentation, liver disease or characteristic MCP involvement. Iron studies screen for systemic iron overload; genetic assessment follows when appropriate. Hyperparathyroidism, hypomagnesaemia and hypothyroidism are other selected secondary causes, but the stated phenotype points strongly to haemochromatosis.

Reference: RHD Australia: Australian guideline for prevention, diagnosis and management of acute rheumatic fever and rheumatic heart disease: https://www.rhdaustralia.org.au/resources/2020-australian-guideline-for-prevention-diagnosis-and-management-of-acute-rheumatic-fever-and-rheumatic-heart-disease-3rd-edition