Hemochromatosis is a hereditary or acquired chronic iron overload syndrome that presents with organ damage to the liver, pancreas, heart, joints and skin due to pathologic iron deposition. Hereditary hemochromatosis is a common genetic disorder with human hemochromatosis protein (HFE) mutations found in European ethnic groups but has low-prevalence in the Asian population. Secondary or acquired hemochromatosis may result from ineffective erythropoiesis, liver disease and parenteral iron overload. A 51-year-old Filipino woman presented with generalized hyperpigmentation associated with severe anemia and hepatomegaly. Laboratory investigation revealed a markedly elevated serum ferritin (>2,000 g/L, 10x the normal) and hepatic aminotransferases (6x elevated). Magnetic resonance imaging (MRI) T2-weighted images revealed hypotense signal of the liver with the magnetic susceptibility measurement (MSM) of iron at 12.297 mg/g indicating severe iron overload. Dermatopathology findings revealed hyperpigmented epidermis with hemosiderin found in the basal keratinocytes as well as around cutaneous adnexal structures. Special stain with Perls’ Prussian blue revealed iron granules that are seen as blue pigments in the epidermis and dermis. Treatment with the oral iron chelator deferiprone (DFP) showed improvement. However, the patient developed hospital-acquired sepsis, deteriorated, and eventually died.
Hemochromatosis ; Iron