We report the case of a 47 year old male with abdominal pain and anemia (Hb 11.4 mg/dl and serum iron 15 μg/dl) associated with hyperferritinemia (707 ng/ml).
Gastroscopy, gastrointestinal ultrasound and transit ruled out inflammatory involvement.
Despite presenting a low transferrin saturation index (3.7 %), a genetic study of hemochromatosis was performed which was negative.
Given the normality of the tests ceruloplasmin and copper metabolism study were requested, which confirmed the diagnosis of aceruloplasminemia: ceruloplasmin less than 7 mg/dl (normal range, 22-dl 150 mg/dl).
No genetic test was performed because it was not available in our center.
Abdominal magnetic resonance imaging (MRI) identified low signal intensity at T1 and T2 compatible with hepatic iron deposits without observing alterations in the brain MRI or in the pathology study.
