2Hacettepe University Faculty of Medicine, Department of Pathology, Ankara, Turkey
3Hacettepe University Faculty of Medicine, Department of Internal Medicine, Division of Gastroenterology, Ankara, Turkey
The presence of autoantibody positivity together with elevated ferritin level and high transferrin saturation can cause diagnostic dilemma. We encountered a challenging case of 38-year-old male patient with new-onset diabetes, malaise, weight lose, dark-yellow discoloration of skin and splenomegaly. Initial laboratory tests revealed thrombocytopenia, leucopenia, elevated unconjugated bilirubin level and mildly elevated liver enzymes in cholestatic pattern. Anti-nuclear antibody(ANA) and anti-smooth muscle antibody (ASMA) were positive with titers of 1/160 and 1/320 respectively along with hypergammaglobulinemia. Transferrin saturation was 92%, and ferritin was 498 µg/L. HFE gene mutation analysis showed C282Y heterozygote mutation which is not diagnostic, but supporting HH. As liver biopsy is the most accurate way to differentiate autoimmune hepatitis (AIH) and hereditary hemochromatosis(HH), it was applied. The diagnosis of HH was confirmed, and of AIH was ruled out. This case highlighted the importance of paying attention to all findings to avoid misdiagnosis and treatment which might result in dangerous outcomes. Additionally, inspite of genetic test, the liver biopsy has still crucial importance by guiding to reach the accurate diagnosis in patients with iron overload especially in patients with concomitant autoantibody positivity.