Differential diagnosis of hyperferritinemia

Dr Mark Crowther is a professor and chair of the Department of Medicine and the Leo Pharma Chair in Thromboembolism Research at McMaster University.

How to approach the differential diagnosis of hyperferritinemia?

Mark Crowther, MD, MSc: Hyperferritinemia is very, very common. The best way to approach that diagnosis is by doing a very good history and physical examination on the patient looking to see if there is evidence of either iron overload—which would be very, very rare, but occasionally you do find it—or, more importantly, other causes of a high ferritin.

If you have an obese patient with a strong alcohol history and a palpably enlarged liver, that is a very good indicator that their ferritin is going to be falsely elevated.

If you have a 62-year-old man who has got a lifelong history of bronzing skin, unusual arthritis in his hands, and type 2 diabetes, that is a very strong indicator that he may have iron overload. You rarely see those patients, but they do exist.

I have seen 2 patients who got to me with clinically apparent iron overload. But there are factors that you can also get out of the history that are useful. For example, hemochromatosis is a partially genetic problem, so if you have a young woman who has a ferritin of 500 that is 60% saturated, but her dad died of type 2 diabetes at 58 years of age, you have to think about the possibility of that being hemochromatosis, with the father having succumbed to undiagnosed complications of that disorder.