IS Case 333: Hemochromatosis
Imaging Sciences URMC 2009
Publication Date: 2009-09-15
Patient is a 26-year-old male with history of red blood cell aplasia (Diamond-Blackfan anemia) presenting with liver failure. He has been receiving bi-weekly blood transfusions since he was 3 months old.
Hemochromatosis is characterized by increased total body iron stores and abnormal iron deposition in multiple organs. Imaging findings in the affected organs include increase attenuation on the CT (over 75 Hounsfield units) and susceptibility artifact on MRI (GRE sequences are the most sensitive).
Primary hemochromatosis (PH) is a genetic disorder of unopposed affinity of transferrin receptor for iron-bound transferrin, as well as increased intestinal iron absorption. The iron deposition in PH occurs in hepatocytes and results in hepatocellular dysfunction, cirrhosis, and increased risk of hepatocellular carcinoma. Parenchymal iron deposition can occur.
Secondary hemochromatosis (SH) can be a result of multiple disorders including hemolytic anemias and multiple transfusions. Iron deposition occurs in reticuloendothelial system - spleen, Kupffer cells of the liver, and bone marrow. Therefore, signal intensity in the pancreas (normal in SH) and spleen (normal in PH) is helpful to determine the etiology of hemochromatosis.
- Joffe S. Hemochromatosis. Emedicine, May 8, 2009. http://emedicine.medscape.com/article/369012-overview
- Kawamoto S, Soyer PA, Fishman EK, Bluemke DA. Nonneoplastic liver disease: evaluation with CT and MR imaging. Radiographics. 1998 Jul-Aug;18(4):827-48. PMID: 9672968