COM'on

The H&E photomicrograph shows cardiomyocytes with increased golden pigment, which is stained blue with an iron stain. This finding is pathognomonic for cardiac involvement from hemochromatosis, but it is interesting to note how subtle it can be on H&E alone.

Hemochromatosis can be primary (from a germline mutation in - most commonly - the HFE gene), or secondary from chronic iron or RBC transfusions (e.g. thalassemia). The disease is associated with a host of systemic symptoms, including endocrinopathies, skin pigmentation, weakness, fatigue, and arthritis.

In the heart, excess iron is toxic. Circulating free iron enters the cardiomyocytes via calcium channels and is catalyzed by the rapid Fenton reaction to produce free radicals. These, in turn, damage the cell membranes resulting in cell dysfunction and ultimately, cell death.

While very early stages of disease have been associated with restrictive physiology, the cardiomyopathy (or, more accurately, the cardiotoxicity) resulting from excess iron deposition is actually of the dilated variety.

- Melanie Bois

SCVP Unknown Case 15

Hemochromatosis

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