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.

Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia.

One of the less common causes of hypercalcemia is familial hypocalciuric hypercalcemia (FHH). It is an autosomal-dominant genetic condition, which presents asymptomatically in most patients while some may have mild symptoms. The serum calcium levels are mildly elevated with mild elevation in parathyroid hormone, which rarely requires management with pharmacologic agents. We present an unusual case report of a 76-year-old woman, confirmed to have FHH type 1 mutation, presented with symptomatic hypercalcemia probably set off by metabolic stresses of her age and needing intensive treatment with intravenous bisphosphonates, calcitonin and cinacalcet.