Case 354.

Abstract

History An asymptomatic 45-year-old man with sickle cell disease and coinherited α-thalassemia was referred to the hepatology department for workup of an indeterminate hepatic mass discovered incidentally at screening cardiac MRI. The patient was diagnosed with sickle cell disease in childhood and required several hospitalizations with blood transfusions. During adulthood, disease management was suboptimal, with infrequent transfusion therapy and undertreated chronic hemolytic anemia. There was no history of malignancy, hepatitis B or C infection, alcohol consumption, metabolic syndrome, diabetes, or fatty liver disease. There was no evidence of tuberous sclerosis, glycogen storage disease, or anabolic steroid use. Laboratory investigations demonstrated chronic hemolytic anemia, with a hemoglobin level of 98-109 g/L (reference range, 135-175 g/L) and markedly elevated reticulocyte count (207.9 × 10⁹/L to 247.8 × 10⁹/L; reference range, 25 × 10⁹/L to 75 × 10⁹/L). Peripheral blood smear showed sickle cells, target cells, and Howell-Jolly bodies. Liver enzymes, synthetic liver function, and tumor markers (α-fetoprotein, carbohydrate antigen 19-9, and carcinoembryonic antigen) were within normal limits. There was no evidence of systemic iron overload. Abdominal US (Fig 1), abdominal MRI (Figs 2, 3), and chest CT (Fig 4) were performed.