A Late and Complex Presentation of Hereditary Haemochromatosis

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.

Automated summary

We report a case study of a 78-year-old male with a complex presentation that initially diverted our attention from underlying hereditary haemochromatosis (HH). The patient initially presented with 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 death for the patient, highlighting the importance of early detection and reduction of iron overload in HH.