Maria Isabel Fiel
Mt. Sinai Medical Center
New York, NY
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A 52 year old man of Italian heritage is found to have abnormal liver chemistry tests when he undergoes an insurance physical. Aside from non-insulin dependent diabetes of 2 years duration he has no significant medical history. He does have increasing fatigue and some problems with erectile dysfunction which he has ascribed to the long hours he has been working at his new job. The patient drinks two cocktails with every dinner. His father died of liver cancer. There is no other significant family history; he is married with 2 teenage sons.
Liver chemistry tests:
ALT -- 52 U/L
AST -- 61 U/L
AP -- 199 U/L
BR -- 1.1 mg/dl
GGTP -- 201 U/L
Ferritin -- 1800 ug/l
Platelets -- 129, 000
INR -- 1.1
Further blood testing reveals:
Transferrin saturation -- 99 %
Serological testing for viral hepatitis is unremarkable
Genetic testing reveals homozygosity for the C282Y gene mutation. An abdominal U/S demonstrates a heterogeneous liver parenchyma and a slightly enlarged spleen. The patient starts a phlebotomy schedule of one unit every 2 weeks so as to bring his ferritin down to 100. An EGD is performed to evaluate GERD-type symptoms and Grade 1 esophageal varices are found.
The working diagnosis is Child's A cirrhosis due to hemochromatosis. The
patient is instructed to discontinue all alcohol use; his sons are screened and both are found to be
heterozygous for C282Y and have normal ferritin values and % saturation. An AFP is checked and is
normal. MRI is performed and demonstrates 2 hyperenhancing lesions in the liver. A CT guided
liver biopsy of one of these lesions is performed to rule out HCC.
Case 2 - Figure 1 - Fine needle liver biopsy specimen, low power magnification showing established cirrhosis with features of burnt-out steatohepatitis. The H&E stain panel shows lobular inflammatory infiltrates and parenchymal collapse. Irregular fibrous tissue bands that bridge and connect adjacent portal and central areas that partially enclose nodules are seen on Masson trichrome stain. Perls' Prussian blue stain shows coarse granular iron deposits within hepatocytes and Kupffer cells.
Case 2 - Figure 2 - Same patient as in figure 1 with an iron-free focus in a high-grade dysplastic nodule. The biopsy is taken from a "mass". The H&E stain panel shows thickened trabeculae consisting of 3 to 4 cell thick plates. The hepatocytes are small and uniform. No portal tract is identified in this field. Trichrome stain shows no significant fibrosis. Iron stain shows very little or no iron deposition except in occasional Kupffer cells.