Introduction

The diagnosis of hemochromatosis can be made in different circumstances: (i) in symptomatic individuals who present with clinical features suggestive of the disorder; (ii) in persons who are discovered to have abnormal serum iron tests; or (iii) in persons who are evaluated in the context of a family study. The insufficient sensitivity and specificity of serum iron tests (transferrin saturation and serum ferritin concentration) sometimes do not permit a definite diagnosis to be made until a hepatic biopsy has been performed. Histologic examination of the liver is an important element in the diagnosis of hemochromatosis, because: (i) it reveals hepatic iron overload and permits an assessment to be made of the distribution of iron in the liver (typically, iron deposition occurs in hepatocytes with periportal and perilobular distribution); (ii) it permits biochemical measurement of hepatic iron concentration to be performed. A hepatic iron index (hepatic iron concentration/ age ratio)> .1.9 is helpful in establishing a diagnosis of hemochromatosis homozygosity; and (iii) it provides assessment of the degree of fibrosis which is of major prognostic significance.

Due to the physical properties of iron, iron overload is responsible for modifications in computed tomography attenuation and magnetic resonance signal intensity of the liver. This has promoted interest in developing these principles as a quantitative method to assess hepatic iron concentration. In this chapter, the focus is on the radiologic, non-invasive diagnosis of iron overload and on providing additional information about radiologic features of hepatocellular carcinoma arising in patients with hemochromatosis.