Autoimmune Hepatitis Mimicking Hemochromatosis

Abstract

We present a case of acute hepatitis with autoantibodies positive for autoimmune hepatitis (AIH) while serum ferritin and transferrin were also high suggesting of hemochromatosis. Accurate diagnosis in such a situation is critical as incorrect treatment could turn lethal. 51-year-old female presented with right upper quadrant pain and generalized malaise. She did not have any fever, chills, vomiting, diarrhea or constipation. However, she noticed dark urine for the last few days prior to presentation. She denied any alcohol, Intravenous drug use or tattoos. She had no history of blood transfusions. Patient was not on any medications and denied use of nutritional supplements or herbal products. Significant family history includes a sister with autoimmune hepatitis and brother with type 1 diabetes mellitus. Lab work revealed AST 1180 IU/L, ALT 1128 IU/L, Total bilirubin 9.8 mg/dl, ALP 151 IU/L, albumin 2.2 g/dl, INR 1.8. Abdominal Ultrasound showed mild gallbladder wall thickening but no stones or signs of inflammation. Viral hepatitis panel was negative. She had elevated transferrin saturation of 78%, elevated ferritin of 1800 ng/ml. Genetic testing for hemochromatosis gene showed H63D - heterozygous condition. Anti-smooth muscle antibody was high along with ANA, high titer with speckled pattern. Eventually, liver biopsy showed that the inflammatory infiltrate was composed of lymphocytes, neutrophils, plasma cells. Frequent apoptotic hepatocytes in areas of necrosis were present. Iron stain was negative with marked portal, interface and lobular hepatitis, consistent more with autoimmune hepatitis. Patient was treated with steroids. Our patient presented with acute hepatitis and had elevated serum ferritin and elevated transferrin. Although ferritin is an acute phase reactant, associated elevated transferrin (>45%) is suggestive of hemochromatosis. She also had anti smooth muscle and antinuclear antibodies suggestive of autoimmune hepatitis, although not diagnostic. Her family history was supportive of diagnosis AIH. Distinguishing the two conditions was essential as the management is drastically different and could be dangerous if administered incorrectly. Hemochromatosis gene testing revealed H63D heterozygous making the diagnosis of hemochromatosis less likely. At this point, we performed a liver biopsy to make the final decision. After reviewing with the pathologist, given the pattern of injury and negative iron stains, a diagnosis of AIH was made.