We report a case of a 78-year-old male with a complex presentation that first diverted our attention from the underlying hereditary haemochromatosis (HH). A fit patient who initially came with leg pain and eventually died within 3 months of presenting with several syndromes relatable to HH that uncommonly manifest together. His initial presentation was pyomyositis in the thigh muscles followed by a diagnosis of myelodysplasia-refractory anaemia with excess blasts (RAEB), congestive cardiac failure and liver abscesses. End-stage heart failure and recurrent infections were the main causes of the patient's death prior to trials of specific treatment for HH. Recurrent atypical infections and myelodysplastic syndrome (MDS) should raise alarms for iron overload. In HH there can be a rapid progression of the disease process resulting in nearly irreversible organopathy, thus impeding treatment trials. Early detection and reduction of iron overload may reduce morbidity and mortality.
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Monash Univ, Fac Med Nursing & Hlth Sci, Melbourne, Vic, AustraliaMonash Univ, Fac Med Nursing & Hlth Sci, Melbourne, Vic, Australia
Maccora, Katia A.
Souzeau, Emmanuelle
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Flinders Univ S Australia, Dept Ophthalmol, Flinders Med Ctr, Adelaide, SA, AustraliaMonash Univ, Fac Med Nursing & Hlth Sci, Melbourne, Vic, Australia
Souzeau, Emmanuelle
Ruddle, Jonathan B.
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Univ Melbourne, Dept Ophthalmol, Melbourne, Vic, AustraliaMonash Univ, Fac Med Nursing & Hlth Sci, Melbourne, Vic, Australia
Ruddle, Jonathan B.
Craig, Jamie E.
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Flinders Univ S Australia, Dept Ophthalmol, Flinders Med Ctr, Adelaide, SA, AustraliaMonash Univ, Fac Med Nursing & Hlth Sci, Melbourne, Vic, Australia
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Radboud Univ Nijmegen, Med Ctr, Dept Gen Internal Med 463, NL-6500 HB Nijmegen, NetherlandsRadboud Univ Nijmegen, Med Ctr, Dept Gen Internal Med 463, NL-6500 HB Nijmegen, Netherlands
Janssen, M. C. H.
Swinkels, D. W.
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Radboud Univ Nijmegen, Med Ctr, Dept Clin Chem, NL-6500 HB Nijmegen, NetherlandsRadboud Univ Nijmegen, Med Ctr, Dept Gen Internal Med 463, NL-6500 HB Nijmegen, Netherlands